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"XM_024450652.1:c.258T>G" ], "proteinEffect": { "hgvs": "XP_024306420.1:p.Tyr86Ter", "hgvsWellDefined": "XP_024306420.1:p.Tyr86_Tyr292delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584186" }, { "@id": "http://reg.genome.network/allele/PA913197234", "coordinates": [ { "allele": "G", "end": 1058, "referenceAllele": "T", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_000382.3:c.837T>G" ], "proteinEffect": { "hgvs": "NP_000373.1:p.Tyr279Ter", "hgvsWellDefined": "NP_000373.1:p.Tyr279_Tyr485delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674821", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000176643.11:c.837T>G" }, "RefSeq": { "hgvs": "NM_000382.3:c.837T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000176643.6:p.Tyr279Ter" }, "RefSeq": { "hgvs": "NP_000373.1:p.Tyr279Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825356261", "coordinates": [ { "allele": "G", "end": 1058, "referenceAllele": "T", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001031806.2:c.837T>G" ], "proteinEffect": { "hgvs": "NP_001026976.1:p.Tyr279Ter", "hgvsWellDefined": "NP_001026976.1:p.Tyr279_Arg508delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675748" }, { "@id": "http://reg.genome.network/allele/PA2828312932", "coordinates": [ { "allele": "G", "end": 967, "referenceAllele": "T", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369136.1:c.837T>G" ], "proteinEffect": { "hgvs": "NP_001356065.1:p.Tyr279Ter", "hgvsWellDefined": "NP_001356065.1:p.Tyr279_Arg508delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691563" }, { "@id": "http://reg.genome.network/allele/PA2828313239", "coordinates": [ { "allele": "G", "end": 990, "referenceAllele": "T", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.1:c.837T>G" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Tyr279Ter", "hgvsWellDefined": "NP_001356066.1:p.Tyr279_Arg508delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691564" }, { "@id": "http://reg.genome.network/allele/PA2828313548", "coordinates": [ { "allele": "G", "end": 990, "referenceAllele": "T", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.1:c.837T>G" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Tyr279Ter", "hgvsWellDefined": "NP_001356067.1:p.Tyr279_Tyr485delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691565" }, { "@id": "http://reg.genome.network/allele/PA2828313861", "coordinates": [ { "allele": "G", "end": 967, "referenceAllele": "T", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369139.1:c.837T>G" ], "proteinEffect": { "hgvs": "NP_001356068.1:p.Tyr279Ter", "hgvsWellDefined": "NP_001356068.1:p.Tyr279_Tyr485delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691566" }, { "@id": "http://reg.genome.network/allele/PA2828314202", "coordinates": [ { "allele": "G", "end": 990, "referenceAllele": "T", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.1:c.837T>G" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Tyr279Ter", "hgvsWellDefined": "NP_001356075.1:p.Tyr279_Phe424delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691568" }, { "@id": "http://reg.genome.network/allele/PA916047553", "coordinates": [ { "allele": "G", "end": 1099, "referenceAllele": "T", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.1:c.258T>G" ], "proteinEffect": { "hgvs": "NP_001356077.1:p.Tyr86Ter", "hgvsWellDefined": "NP_001356077.1:p.Tyr86_Tyr292delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691569" }, { "@id": "http://reg.genome.network/allele/PA2828313239", "coordinates": [ { "allele": "G", "end": 1004, "referenceAllele": "T", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.2:c.837T>G" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Tyr279Ter", "hgvsWellDefined": "NP_001356066.1:p.Tyr279_Arg508delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721137" }, { "@id": "http://reg.genome.network/allele/PA2828313548", "coordinates": [ { "allele": "G", "end": 1004, "referenceAllele": "T", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.2:c.837T>G" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Tyr279Ter", "hgvsWellDefined": "NP_001356067.1:p.Tyr279_Tyr485delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721138" }, { "@id": "http://reg.genome.network/allele/PA2828314202", "coordinates": [ { "allele": "G", "end": 1004, "referenceAllele": "T", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.2:c.837T>G" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Tyr279Ter", "hgvsWellDefined": "NP_001356075.1:p.Tyr279_Phe424delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721139" }, { "@id": "http://reg.genome.network/allele/PA916047553", "coordinates": [ { "allele": "G", "end": 1113, "referenceAllele": "T", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.2:c.258T>G" ], "proteinEffect": { "hgvs": "NP_001356077.1:p.Tyr86Ter", "hgvsWellDefined": "NP_001356077.1:p.Tyr86_Tyr292delinsGluArgIleIleAsnLeuArgHisPheLysArgIleLeuSerLeuLeuGluGlyGlnLysIleAlaPheGlyGlyGluThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721140" } ], "type": "nucleotide" }