{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA199076", "communityStandardTitle": [ "NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186955[alleleid]", "alleleId": 186955, "preferredName": "NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188833", "RCV": [ "RCV000169182", "RCV001041547" ], "variationId": 188833 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-19552312-C-T", "id": "17-19552312-C-T", "variant": "17:19552312 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.19552312C>T?assembly=hg19", "id": "chr17:g.19552312C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.19648999C>T?assembly=hg38", "id": "chr17:g.19648999C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/72547554", "rs": 72547554 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-19552312-C-T?dataset=gnomad_r2_1", "id": "17-19552312-C-T", "variant": "17:19552312 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-19648999-C-T?dataset=gnomad_r4", "id": "17-19648999-C-T", "variant": "17:19648999 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 19648999, "referenceAllele": "C", "start": 19648998 } ], "hgvs": [ "NC_000017.11:g.19648999C>T", "CM000679.2:g.19648999C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 19552312, "referenceAllele": "C", "start": 19552311 } ], "hgvs": [ "NC_000017.10:g.19552312C>T", "CM000679.1:g.19552312C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 19492904, "referenceAllele": "C", "start": 19492903 } ], "hgvs": [ "NC_000017.9:g.19492904C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 5249, "referenceAllele": "C", "start": 5248 } ], "hgvs": [ "NG_007095.2:g.5249C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000476" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000176643.11:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000176643.6:p.Gln10Ter", "hgvsWellDefined": "ENSP00000176643.6:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740084", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000176643.11:c.28C>T" }, "RefSeq": { "hgvs": "NM_000382.3:c.28C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000176643.6:p.Gln10Ter" }, "RefSeq": { "hgvs": "NP_000373.1:p.Gln10Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000395575.7:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000378942.3:p.Gln10Ter", "hgvsWellDefined": "ENSP00000378942.3:p.Gln10_Tyr376delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753413" }, { "coordinates": [ { "allele": "T", "end": 38, "referenceAllele": "C", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000446398.7:n.38C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS756083" }, { "coordinates": [ { "allele": "T", "end": 151, "referenceAllele": "C", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000467473.6:n.151C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS756903" }, { "coordinates": [ { "allele": "T", "end": 149, "referenceAllele": "C", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000472059.6:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000458397.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000458397.1:p.Gln10_Glu182delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnProPheCysSerAsnSerCysAspAspProIleLysLysAspGluMetGluAspSerGluMetSerArgIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757050" }, { "coordinates": [ { "allele": "T", "end": 195, "referenceAllele": "C", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000581518.6:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000461916.2:p.Gln10Ter", "hgvsWellDefined": "ENSP00000461916.2:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760909" }, { "coordinates": [ { "allele": "T", "end": 128, "referenceAllele": "C", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000582991.6:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000464153.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000464153.1:p.Gln10_Tyr393delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysValProValGlyTrpGluLeuIleThrGluAsnIleValLeuIleLeuPheLeuIleSerValProValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760936" }, { "coordinates": [ { "allele": "T", "end": 219, "referenceAllele": "C", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000671878.1:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000500516.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000500516.1:p.Gln10_Lys521delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysGluValSerSerValSerAlaTrpLeuProIleValTrpAspValArgSerProCysAlaTrpProProHisLeuGlySerGluAlaArgLeuCysLeuAlaAlaThrThrSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773196" }, { "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672357.1:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000500092.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000500092.1:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773360" }, { "coordinates": [ { "allele": "T", "end": 157, "referenceAllele": "C", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672465.1:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000500517.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000500517.1:p.Gln10_Lys521delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysGluValSerSerValSerAlaTrpLeuProIleValTrpAspValArgSerProCysAlaTrpProProHisLeuGlySerGluAlaArgLeuCysLeuAlaAlaThrThrSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773392" }, { "coordinates": [ { "allele": "T", "end": 212, "referenceAllele": "C", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672487.1:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000500740.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000500740.1:p.Gln10_Ile233delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgAsnPheMetGluLysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773398" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000672564.1:n.249C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773416" }, { "coordinates": [ { "allele": "T", "end": 178, "referenceAllele": "C", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000673136.1:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000500380.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000500380.1:p.Gln10_Gly403delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773596" }, { "coordinates": [ { "allele": "T", "end": 474, "referenceAllele": "C", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000176643.10:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000176643.6:p.Gln10Ter", "hgvsWellDefined": "ENSP00000176643.6:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247688" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000339618.8:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000345774.4:p.Gln10Ter", "hgvsWellDefined": "ENSP00000345774.4:p.Gln10_Arg508delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260913" }, { "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000395575.6:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000378942.2:p.Gln10Ter", "hgvsWellDefined": "ENSP00000378942.2:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276768" }, { "coordinates": [ { "allele": "T", "end": 195, "referenceAllele": "C", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000446398.6:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000395845.2:p.Gln10Ter", "hgvsWellDefined": "ENSP00000395845.2:p.Gln10_Gly166del" }, "referenceSequence": "http://reg.genome.network/refseq/RS298717" }, { "coordinates": [ { "allele": "T", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000467473.5:n.185C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310601" }, { "coordinates": [ { "allele": "T", "end": 149, "referenceAllele": "C", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000472059.5:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000458397.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000458397.1:p.Gln10_Glu182delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnProPheCysSerAsnSerCysAspAspProIleLysLysAspGluMetGluAspSerGluMetSerArgIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS314121" }, { "coordinates": [ { "allele": "T", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000578614.1:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000463128.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000463128.1:p.Gln10_Leu54delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysGluMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS385449" }, { "coordinates": [ { "allele": "T", "end": 74, "referenceAllele": "C", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000579403.1:n.74C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS385832" }, { "coordinates": [ { "allele": "T", "end": 127, "referenceAllele": "C", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000579855.5:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000463637.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000463637.1:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS386039" }, { "coordinates": [ { "allele": "T", "end": 129, "referenceAllele": "C", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000580550.5:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000462964.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000462964.1:p.Gln10Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS386378" }, { "coordinates": [ { "allele": "T", "end": 277, "referenceAllele": "C", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000581518.5:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000461916.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000461916.1:p.Gln10_Arg508delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS386826" }, { "coordinates": [ { "allele": "T", "end": 277, "referenceAllele": "C", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000582991.5:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000464153.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000464153.1:p.Gln10_Tyr393delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysValProValGlyTrpGluLeuIleThrGluAsnIleValLeuIleLeuPheLeuIleSerValProValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS387529" }, { "coordinates": [ { "allele": "T", "end": 127, "endIntronDirection": "-", "endIntronOffset": 2, "referenceAllele": "C", "start": 127, "startIntronDirection": "-", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000584332.6:c.-66-3C>T" ], "proteinEffect": { "hgvs": "ENSP00000466814.1:n.-66-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS388164" }, { "coordinates": [ { "allele": "T", "end": 474, "referenceAllele": "C", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000626500.2:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000486283.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000486283.1:p.Gln10_Glu182delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnProPheCysSerAsnSerCysAspAspProIleLysLysAspGluMetGluAspSerGluMetSerArgIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406751" }, { "coordinates": [ { "allele": "T", "end": 194, "referenceAllele": "C", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000630662.2:c.-954C>T" ], "proteinEffect": { "hgvs": "ENSP00000487353.1:n.-954C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS407399" }, { "coordinates": [ { "allele": "T", "end": 474, "referenceAllele": "C", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "ENST00000631291.2:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000486085.1:p.Gln10Ter", "hgvsWellDefined": "ENSP00000486085.1:p.Gln10_Tyr393delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysValProValGlyTrpGluLeuIleThrGluAsnIleValLeuIleLeuPheLeuIleSerValProValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407498" }, { "@id": "http://reg.genome.network/allele/PA199077", "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_000382.2:c.28C>T" ], "proteinEffect": { "hgvs": "NP_000373.1:p.Gln10Ter", "hgvsWellDefined": "NP_000373.1:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006444" }, { "@id": "http://reg.genome.network/allele/PA2825355769", "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001031806.1:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001026976.1:p.Gln10Ter", "hgvsWellDefined": "NP_001026976.1:p.Gln10_Arg508delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009036" }, { "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "C", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_011523732.1:c.28C>T" ], "proteinEffect": { "hgvs": "XP_011522034.1:p.Gln10Ter", "hgvsWellDefined": "XP_011522034.1:p.Gln10_Arg508delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090865" }, { "coordinates": [ { "allele": "T", "end": 195, "referenceAllele": "C", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_011523733.1:c.28C>T" ], "proteinEffect": { "hgvs": "XP_011522035.1:p.Gln10Ter", "hgvsWellDefined": "XP_011522035.1:p.Gln10_Arg508delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090866" }, { "coordinates": [ { "allele": "T", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_011523733.2:c.28C>T" ], "proteinEffect": { "hgvs": "XP_011522035.1:p.Gln10Ter", "hgvsWellDefined": "XP_011522035.1:p.Gln10_Arg508delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547145" }, { "coordinates": [ { "allele": "T", "end": 51, "referenceAllele": "C", "start": 50 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_017024355.1:c.28C>T" ], "proteinEffect": { "hgvs": "XP_016879844.1:p.Gln10Ter", "hgvsWellDefined": "XP_016879844.1:p.Gln10_Phe424delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574934" }, { "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_017024356.2:c.28C>T" ], "proteinEffect": { "hgvs": "XP_016879845.1:p.Gln10Ter", "hgvsWellDefined": "XP_016879845.1:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574935" }, { "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "C", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_017024357.1:c.28C>T" ], "proteinEffect": { "hgvs": "XP_016879846.1:p.Gln10Ter", "hgvsWellDefined": "XP_016879846.1:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574936" }, { "coordinates": [ { "allele": "T", "end": 157, "referenceAllele": "C", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_017024358.2:c.28C>T" ], "proteinEffect": { "hgvs": "XP_016879847.1:p.Gln10Ter", "hgvsWellDefined": "XP_016879847.1:p.Gln10_Phe424delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574937" }, { "coordinates": [ { "allele": "T", "end": 152, "referenceAllele": "C", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "XM_024450652.1:c.-661C>T" ], "proteinEffect": { "hgvs": "XP_024306420.1:n.-661C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS584186" }, { "@id": "http://reg.genome.network/allele/PA199077", "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_000382.3:c.28C>T" ], "proteinEffect": { "hgvs": "NP_000373.1:p.Gln10Ter", "hgvsWellDefined": "NP_000373.1:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674821", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000176643.11:c.28C>T" }, "RefSeq": { "hgvs": "NM_000382.3:c.28C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000176643.6:p.Gln10Ter" }, "RefSeq": { "hgvs": "NP_000373.1:p.Gln10Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825355769", "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001031806.2:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001026976.1:p.Gln10Ter", "hgvsWellDefined": "NP_001026976.1:p.Gln10_Arg508delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675748" }, { "@id": "http://reg.genome.network/allele/PA2828312757", "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "C", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369136.1:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001356065.1:p.Gln10Ter", "hgvsWellDefined": "NP_001356065.1:p.Gln10_Arg508delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691563" }, { "@id": "http://reg.genome.network/allele/PA2828313065", "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "C", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.1:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Gln10Ter", "hgvsWellDefined": "NP_001356066.1:p.Gln10_Arg508delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691564" }, { "@id": "http://reg.genome.network/allele/PA2828313375", "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "C", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.1:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Gln10Ter", "hgvsWellDefined": "NP_001356067.1:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691565" }, { "@id": "http://reg.genome.network/allele/PA2828313688", "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "C", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369139.1:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001356068.1:p.Gln10Ter", "hgvsWellDefined": "NP_001356068.1:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691566" }, { "@id": "http://reg.genome.network/allele/PA916047508", "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "C", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.1:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Gln10Ter", "hgvsWellDefined": "NP_001356075.1:p.Gln10_Phe424delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691568" }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "C", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.1:c.-661C>T" ], "proteinEffect": { "hgvs": "NP_001356077.1:n.-661C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691569" }, { "@id": "http://reg.genome.network/allele/PA2828313065", "coordinates": [ { "allele": "T", "end": 195, "referenceAllele": "C", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.2:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Gln10Ter", "hgvsWellDefined": "NP_001356066.1:p.Gln10_Arg508delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721137" }, { "@id": "http://reg.genome.network/allele/PA2828313375", "coordinates": [ { "allele": "T", "end": 195, "referenceAllele": "C", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.2:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Gln10Ter", "hgvsWellDefined": "NP_001356067.1:p.Gln10_Tyr485delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721138" }, { "@id": "http://reg.genome.network/allele/PA916047508", "coordinates": [ { "allele": "T", "end": 195, "referenceAllele": "C", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.2:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Gln10Ter", "hgvsWellDefined": "NP_001356075.1:p.Gln10_Phe424delinsAlaPheLeuSerGlyArgSerArgProLeuArgPheArgLeuGlnGlnLeuGluAlaLeuArgArgMetValGlnGluArgGluLysAspIleLeuThrAlaIleAlaAlaAspLeuCysLysSerGluPheAsnValTyrSerGlnGluValIleThrValLeuGlyGluIleAspPheMetLeuGluAsnLeuProGluTrpValThrAlaLysProValLysLysAsnValLeuThrMetLeuAspGluAlaTyrIleGlnProGlnProLeuGlyValValLeuIleIleGlyAlaTrpAsnTyrProPheValLeuThrIleGlnProLeuIleGlyAlaIleAlaAlaGlyAsnAlaValIleIleLysProSerGluLeuSerGluAsnThrAlaLysIleLeuAlaLysLeuLeuProGlnTyrLeuAspGlnAspLeuTyrIleValIleAsnGlyGlyValGluGluThrThrGluLeuLeuLysGlnArgPheAspHisIlePheTyrThrGlyAsnThrAlaValGlyLysIleValMetGluAlaAlaAlaLysHisLeuThrProValThrLeuGluLeuGlyGlyLysSerProCysTyrIleAspLysAspCysAspLeuAspIleValCysArgArgIleThrTrpGlyLysTyrMetAsnCysGlyGlnThrCysIleAlaProAspTyrIleLeuCysGluAlaSerLeuGlnAsnGlnIleValTrpLysIleLysGluThrValLysGluPheTyrGlyGluAsnIleLysGluSerProAspTyrGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721139" }, { "coordinates": [ { "allele": "T", "end": 195, "referenceAllele": "C", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.2:c.-661C>T" ], "proteinEffect": { "hgvs": "NP_001356077.1:n.-661C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721140" } ], "type": "nucleotide" }