{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA261202", "communityStandardTitle": [ "NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48298[alleleid]", "alleleId": 48298, "preferredName": "NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39699", "RCV": [ "RCV000032901" ], "variationId": 39699 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.71171175T>A?assembly=hg19", "id": "chr16:g.71171175T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.71137272T>A?assembly=hg38", "id": "chr16:g.71137272T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397515414", "rs": 397515414 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-71137272-T-A?dataset=gnomad_r4", "id": "16-71137272-T-A", "variant": "16:71137272 T / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 71137272, "referenceAllele": "T", "start": 71137271 } ], "hgvs": [ "NC_000016.10:g.71137272T>A", "CM000678.2:g.71137272T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 71171175, "referenceAllele": "T", "start": 71171174 } ], "hgvs": [ "NC_000016.9:g.71171175T>A", "CM000678.1:g.71171175T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "coordinates": [ { "allele": "T", "end": 98451, "referenceAllele": "A", "start": 98450 } ], "hgvs": [ "NG_033116.1:g.98451A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005441" }, { "coordinates": [ { "allele": "T", "end": 98451, "referenceAllele": "A", "start": 98450 } ], "hgvs": [ "NG_033116.2:g.98451A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616350" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "A", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "ENST00000393567.7:c.922A>T" ], "proteinEffect": { "hgvs": "ENSP00000377197.2:p.Lys308Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS753139", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393567.7:c.922A>T" }, "RefSeq": { "hgvs": "NM_001270974.2:c.922A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377197.2:p.Lys308Ter" }, "RefSeq": { "hgvs": "NP_001257903.1:p.Lys308Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "A", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "ENST00000288168.14:c.973A>T" ], "proteinEffect": { "hgvs": "ENSP00000288168.10:p.Lys325Ter", "hgvsWellDefined": "ENSP00000288168.10:p.Lys325_Gln725delinsThrTyrIleSerLeuAlaAsnGlnArgThrIleThrIleHisAsnArgSerAsnIleIleAlaHisPheLeuTrpLysValPheAlaThrGlnGlnGluGluAspArgGluLysTyrArgAlaCysAspAspLeuIleLysGluGluLysAspGluThrAspGluPhePheGluGluCysIleThrAspProLeuLeuArgGluHisLeuSerValLeuSerArgThrPheAlaAsnGlnArgArgLeuValGlnGlyAspSerLysLeuPhePheAsnAsnValPheThrValGluProLeuGluGlyAspValTrpProAsnSerSerAlaGluIleThrValTyrPheAsnProLeuGluAlaLysLeuTyrGlnGlnThrIleTyrCysAspIleLeuGlyArgGluIleArgLeuProLeuArgIleLysGlyGluGlyMetGlyProLysIleHisPheAsnPheGluLeuLeuAspIleGlyLysValPheThrGlySerAlaHisCysTyrGluAlaIleLeuTyrAsnLysGlySerIleAspAlaLeuPheAsnMetThrProProThrSerAlaLeuGlyAlaCysPheValPheSerProLysGluGlyIleIleGluProSerGlyValGlnAlaIleGlnIleSerPheSerSerThrIleLeuGlyAsnPheGluGluGluPheLeuValAsnValAsnGlySerProGluProValLysLeuThrIleArgGlyCysValIleGlyProThrPheHisPheAsnValProAlaLeuHisPheGlyAspValSerPheGlyPheProHisThrLeuIleCysSerLeuAsnAsnThrSerLeuIleProMetThrTyrLysLeuArgIleProGlyAspGlyLeuGlyHisLysSerIleSerTyrCysGluGlnHisValAspTyrLysArgProSerTrpThrLysGluGluIleSerSerMetLysProLysGluPheThrIleSerProAspCysGlyThrIleArgProGlnGlyPheAlaAlaIleArgValThrLeuCysSerAsnThrValGlnLysTyrGluLeuAlaLeuValValAspValGluGlyIleGlyGluGluValLeuAlaLeuLeuIleThrAlaArgTyrCysSerProAlaCysSerSerProGluSerProProSerLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253499" }, { "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "A", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "ENST00000321489.9:c.922A>T" ], "proteinEffect": { "hgvs": "ENSP00000314736.5:p.Lys308Ter", "hgvsWellDefined": "ENSP00000314736.5:p.Lys308_Gly1017delinsThrTyrIleSerLeuAlaAsnGlnArgThrIleThrIleHisAsnArgSerAsnIleIleAlaHisPheLeuTrpLysValPheAlaThrGlnGlnGluGluAspArgGluLysTyrArgAlaCysAspAspLeuIleLysGluGluLysAspGluThrAspGluPhePheGluGluCysIleThrAspProLeuLeuArgGluHisLeuSerValLeuSerArgThrPheAlaAsnGlnArgArgLeuValGlnGlyAspSerLysLeuPhePheAsnAsnValPheThrValGluProLeuGluGlyAspValTrpProAsnSerSerAlaGluIleThrValTyrPheAsnProLeuGluAlaLysLeuTyrGlnGlnThrIleTyrCysAspIleLeuGlyArgGluIleArgLeuProLeuArgIleLysGlyGluGlyMetGlyProLysIleHisPheAsnPheGluLeuLeuAspIleGlyLysValPheThrGlySerAlaHisCysTyrGluAlaIleLeuTyrAsnLysGlySerIleAspAlaLeuPheAsnMetThrProProThrSerAlaLeuGlyAlaCysPheValPheSerProLysGluGlyIleIleGluProSerGlyValGlnAlaIleGlnIleSerPheSerSerThrIleLeuGlyAsnPheGluGluGluPheLeuValAsnValAsnGlySerProGluProValLysLeuThrIleArgGlyCysValIleGlyProThrPheHisPheAsnValProAlaLeuHisPheGlyAspValSerPheGlyPheProHisThrLeuIleCysSerLeuAsnAsnThrSerLeuIleProMetThrTyrLysLeuArgIleProGlyAspGlyLeuGlyHisLysSerIleSerTyrCysGluGlnHisValAspTyrLysArgProSerTrpThrLysGluGluIleSerSerMetLysProLysGluPheThrIleSerProAspCysGlyThrIleArgProGlnGlyPheAlaAlaIleArgValThrLeuCysSerAsnThrValGlnLysTyrGluLeuAlaLeuValValAspValGluGlyIleGlyGluGluValLeuAlaLeuLeuIleThrAlaArgCysValValProAlaLeuHisLeuValAsnThrGluValAspPheGlyHisCysPheLeuLysTyrProTyrGluLysThrLeuGlnLeuAlaAsnGlnAspAspLeuProGlyPheTyrGluValGlnProGlnValCysGluGluValProThrValLeuPheSerSerProThrProSerGlyValIleSerProSerSerThrIleHisIleProLeuValLeuGluThrGlnValThrGlyGluHisArgSerThrValTyrIleSerIlePheGlySerGlnAspProProLeuValCysHisLeuLysSerAlaGlyGluGlyProValIleTyrValHisProAsnGlnValAspPheGlyAsnIleTyrValLeuLysAspSerSerArgIleLeuAsnLeuCysAsnGlnSerPheIleProAlaPhePheGlnAlaHisMetAlaHisLysLysSerLeuTrpThrIleGluProAsnGluGlyMetValProProGluThrAspValGlnLeuAlaLeuThrAlaAsnLeuAsnAspThrLeuThrPheLysAspCysValIleLeuAspIleGluAsnSerSerThrTyrArgIleProValGlnAlaSerGlyThrGlySerThrIleValSerAspLysProPheAlaProGluLeuAsnLeuGlyAlaHisPheSerLeuAspThrHisTyrTyrHisPheLysLeuIleAsnLysGlyArgArgIleGlnGlnLeuPheTrpMetAsnAspSerPheArgProGlnAlaLysLeuSerLysLysGlyArgValLysLysGlyHisAlaHisValGlnProGlnProSerGlySerGlnGluProArgAspProGlnSerProValPheHisLeuHisProAlaSerMetGluLeuTyrProGlyGlnAlaIleAspValIleLeuGluGlyTyrSerAlaThrProArgValArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257950" }, { "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "A", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "ENST00000393567.6:c.922A>T" ], "proteinEffect": { "hgvs": "ENSP00000377197.2:p.Lys308Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS275695" }, { "coordinates": [ { "allele": "T", "end": 314, "referenceAllele": "A", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "ENST00000536785.1:n.314A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS360431" }, { "coordinates": [ { "allele": "T", "end": 1038, "referenceAllele": "A", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "ENST00000538248.5:c.1003A>T" ], "proteinEffect": { "hgvs": "ENSP00000444970.1:p.Lys335Ter", "hgvsWellDefined": "ENSP00000444970.1:p.Lys335_Arg950delinsThrTyrIleSerLeuAlaAsnGlnArgThrIleThrIleHisAsnArgSerAsnIleIleAlaHisPheLeuTrpLysValPheAlaThrGlnGlnGluGluAspArgGluLysTyrArgAlaCysAspAspLeuIleLysGluGluLysAspGluThrAspGluPhePheGluGluCysIleThrAspProLeuLeuArgGluHisLeuSerValLeuSerArgThrPheAlaAsnGlnArgArgLeuValGlnGlyAspSerLysLeuPhePheAsnAsnValPheThrValGluProLeuGluGlyAspValTrpProAsnSerSerAlaGluIleThrValTyrPheAsnProLeuGluAlaLysLeuTyrGlnGlnThrIleTyrCysAspIleLeuGlyArgGluIleArgLeuProLeuArgIleLysGlyGluGlyMetGlyProLysIleHisPheAsnPheGluLeuLeuAspIleGlyLysValPheThrGlySerAlaHisCysTyrGluAlaIleLeuTyrAsnLysGlySerIleAspAlaLeuPheAsnMetThrProProThrSerAlaLeuGlyAlaCysPheValPheSerProLysGluGlyIleIleGluProSerGlyValGlnAlaIleGlnIleSerPheSerSerThrIleLeuGlyAsnPheGluGluGluPheLeuValAsnValAsnGlySerProGluProValLysLeuThrIleArgGlyCysValIleGlyProThrPheHisPheAsnValProAlaLeuHisPheGlyAspValSerPheGlyPheProHisThrLeuIleCysSerLeuAsnAsnThrSerLeuIleProMetThrTyrLysLeuArgIleProGlyAspGlyLeuGlyHisLysSerIleSerTyrCysGluGlnHisValAspTyrLysArgProSerTrpThrLysGluGluIleSerSerMetLysProLysGluPheThrIleSerProAspCysGlyThrIleArgProGlnGlyPheAlaAlaIleArgValThrLeuCysSerAsnThrValGlnLysTyrGluLeuAlaLeuValValAspValGluGlyIleGlyGluGluValLeuAlaLeuLeuIleThrAlaArgCysValValProAlaLeuHisLeuValAsnThrGluValAspPheGlyHisCysPheLeuLysTyrProTyrGluLysThrLeuGlnLeuAlaAsnGlnAspAspLeuProGlyPheTyrGluValGlnProGlnValCysGluGluValProThrValLeuPheSerSerProThrProSerGlyValIleSerProSerSerThrIleHisIleProLeuValLeuGluThrGlnValThrGlyGluHisArgSerThrValTyrIleSerIlePheGlySerGlnAspProProLeuValCysHisLeuLysSerAlaGlyGluGlyProValIleTyrValHisProAsnGlnValAspPheGlyAsnIleTyrValLeuLysAspSerSerArgIleLeuAsnLeuCysAsnGlnSerPheIleProAlaPhePheGlnAlaHisMetAlaHisLysLysSerLeuTrpThrIleGluProAsnGluGlyMetValProProGluThrAspValGlnLeuAlaLeuThrAlaAsnLeuAsnAspThrLeuThrPheLysAspCysValIleLeuAspIleGluAsnSerSerThrTyrArgIleProValGlnAlaSerGlyThrGlySerThrIleValSerAspLysProPheAlaProGluLeuAsnLeuGlyAlaHisPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361215" }, { "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "A", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "ENST00000538382.1:c.438A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS361294" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "A", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "ENST00000539447.5:c.625A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS361868" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "A", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "ENST00000541601.5:c.973A>T" ], "proteinEffect": { "hgvs": "ENSP00000437341.1:p.Lys325Ter", "hgvsWellDefined": "ENSP00000437341.1:p.Lys325_Arg940delinsThrTyrIleSerLeuAlaAsnGlnArgThrIleThrIleHisAsnArgSerAsnIleIleAlaHisPheLeuTrpLysValPheAlaThrGlnGlnGluGluAspArgGluLysTyrArgAlaCysAspAspLeuIleLysGluGluLysAspGluThrAspGluPhePheGluGluCysIleThrAspProLeuLeuArgGluHisLeuSerValLeuSerArgThrPheAlaAsnGlnArgArgLeuValGlnGlyAspSerLysLeuPhePheAsnAsnValPheThrValGluProLeuGluGlyAspValTrpProAsnSerSerAlaGluIleThrValTyrPheAsnProLeuGluAlaLysLeuTyrGlnGlnThrIleTyrCysAspIleLeuGlyArgGluIleArgLeuProLeuArgIleLysGlyGluGlyMetGlyProLysIleHisPheAsnPheGluLeuLeuAspIleGlyLysValPheThrGlySerAlaHisCysTyrGluAlaIleLeuTyrAsnLysGlySerIleAspAlaLeuPheAsnMetThrProProThrSerAlaLeuGlyAlaCysPheValPheSerProLysGluGlyIleIleGluProSerGlyValGlnAlaIleGlnIleSerPheSerSerThrIleLeuGlyAsnPheGluGluGluPheLeuValAsnValAsnGlySerProGluProValLysLeuThrIleArgGlyCysValIleGlyProThrPheHisPheAsnValProAlaLeuHisPheGlyAspValSerPheGlyPheProHisThrLeuIleCysSerLeuAsnAsnThrSerLeuIleProMetThrTyrLysLeuArgIleProGlyAspGlyLeuGlyHisLysSerIleSerTyrCysGluGlnHisValAspTyrLysArgProSerTrpThrLysGluGluIleSerSerMetLysProLysGluPheThrIleSerProAspCysGlyThrIleArgProGlnGlyPheAlaAlaIleArgValThrLeuCysSerAsnThrValGlnLysTyrGluLeuAlaLeuValValAspValGluGlyIleGlyGluGluValLeuAlaLeuLeuIleThrAlaArgCysValValProAlaLeuHisLeuValAsnThrGluValAspPheGlyHisCysPheLeuLysTyrProTyrGluLysThrLeuGlnLeuAlaAsnGlnAspAspLeuProGlyPheTyrGluValGlnProGlnValCysGluGluValProThrValLeuPheSerSerProThrProSerGlyValIleSerProSerSerThrIleHisIleProLeuValLeuGluThrGlnValThrGlyGluHisArgSerThrValTyrIleSerIlePheGlySerGlnAspProProLeuValCysHisLeuLysSerAlaGlyGluGlyProValIleTyrValHisProAsnGlnValAspPheGlyAsnIleTyrValLeuLysAspSerSerArgIleLeuAsnLeuCysAsnGlnSerPheIleProAlaPhePheGlnAlaHisMetAlaHisLysLysSerLeuTrpThrIleGluProAsnGluGlyMetValProProGluThrAspValGlnLeuAlaLeuThrAlaAsnLeuAsnAspThrLeuThrPheLysAspCysValIleLeuAspIleGluAsnSerSerThrTyrArgIleProValGlnAlaSerGlyThrGlySerThrIleValSerAspLysProPheAlaProGluLeuAsnLeuGlyAlaHisPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363013" }, { "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "A", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "ENST00000545230.5:c.286A>T" ], "proteinEffect": { "hgvs": "ENSP00000463422.1:p.Lys96Ter", "hgvsWellDefined": "ENSP00000463422.1:p.Lys96_Thr528delinsThrTyrIleSerLeuAlaAsnGlnArgThrIleThrIleHisAsnArgSerAsnIleIleAlaHisPheLeuTrpLysValPheAlaThrGlnGlnGluGluAspArgGluLysTyrArgAlaCysAspAspLeuIleLysGluGluLysAspGluThrAspGluPhePheGluGluCysIleThrAspProLeuLeuArgGluHisLeuSerValLeuSerArgThrPheAlaAsnGlnArgArgLeuValGlnGlyAspSerLysLeuPhePheAsnAsnValPheThrValGluProLeuGluGlyAspValTrpProAsnSerSerAlaGluIleThrValTyrPheAsnProLeuGluAlaLysLeuTyrGlnGlnThrIleTyrCysAspIleLeuGlyArgGluIleArgLeuProLeuArgIleLysGlyGluGlyMetGlyProLysIleHisPheAsnPheGluLeuLeuAspIleGlyLysValPheThrGlySerAlaHisCysTyrGluAlaIleLeuTyrAsnLysGlySerIleAspAlaLeuPheAsnMetThrProProThrSerAlaLeuGlyAlaCysPheValPheSerProLysGluGlyIleIleGluProSerGlyValGlnAlaIleGlnIleSerPheSerSerThrIleLeuGlyAsnPheGluGluGluPheLeuValAsnValAsnGlySerProGluProValLysLeuThrIleArgGlyCysValIleGlyProThrPheHisPheAsnValProAlaLeuHisPheGlyAspValSerPheAlaThrGlnGluLeuArgAspProGlnValLeuIleProPheGlnArgPheProHisThrLeuIleCysSerLeuAsnAsnThrSerLeuIleProMetThrTyrLysLeuArgIleProGlyAspGlyLeuGlyHisLysSerIleSerTyrCysGluGlnHisValAspTyrLysArgProSerTrpThrLysGluGluIleSerSerMetLysProLysGluPheThrIleSerProAspCysGlyThrIleArgProGlnGlyPheAlaAlaIleArgValThrLeuCysSerAsnThrValGlnLysTyrGluLeuAlaLeuValValAspValGluGlyIleGlyGluGluValLeuAlaLeuLeuIleThrAlaSerAlaProGluLeuCysAsnArgLysValMetLeuSerValLeuGlnTrpLysIleHisArgAlaLysArgSerLeuProArgAspThrValAlaValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS365000" }, { "@id": "http://reg.genome.network/allele/PA916002385", "coordinates": [ { "allele": "T", "end": 1038, "referenceAllele": "A", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "NM_001198542.1:c.1003A>T" ], "proteinEffect": { "hgvs": "NP_001185471.1:p.Lys335Ter", "hgvsWellDefined": "NP_001185471.1:p.Lys335_Arg950delinsThrTyrIleSerLeuAlaAsnGlnArgThrIleThrIleHisAsnArgSerAsnIleIleAlaHisPheLeuTrpLysValPheAlaThrGlnGlnGluGluAspArgGluLysTyrArgAlaCysAspAspLeuIleLysGluGluLysAspGluThrAspGluPhePheGluGluCysIleThrAspProLeuLeuArgGluHisLeuSerValLeuSerArgThrPheAlaAsnGlnArgArgLeuValGlnGlyAspSerLysLeuPhePheAsnAsnValPheThrValGluProLeuGluGlyAspValTrpProAsnSerSerAlaGluIleThrValTyrPheAsnProLeuGluAlaLysLeuTyrGlnGlnThrIleTyrCysAspIleLeuGlyArgGluIleArgLeuProLeuArgIleLysGlyGluGlyMetGlyProLysIleHisPheAsnPheGluLeuLeuAspIleGlyLysValPheThrGlySerAlaHisCysTyrGluAlaIleLeuTyrAsnLysGlySerIleAspAlaLeuPheAsnMetThrProProThrSerAlaLeuGlyAlaCysPheValPheSerProLysGluGlyIleIleGluProSerGlyValGlnAlaIleGlnIleSerPheSerSerThrIleLeuGlyAsnPheGluGluGluPheLeuValAsnValAsnGlySerProGluProValLysLeuThrIleArgGlyCysValIleGlyProThrPheHisPheAsnValProAlaLeuHisPheGlyAspValSerPheGlyPheProHisThrLeuIleCysSerLeuAsnAsnThrSerLeuIleProMetThrTyrLysLeuArgIleProGlyAspGlyLeuGlyHisLysSerIleSerTyrCysGluGlnHisValAspTyrLysArgProSerTrpThrLysGluGluIleSerSerMetLysProLysGluPheThrIleSerProAspCysGlyThrIleArgProGlnGlyPheAlaAlaIleArgValThrLeuCysSerAsnThrValGlnLysTyrGluLeuAlaLeuValValAspValGluGlyIleGlyGluGluValLeuAlaLeuLeuIleThrAlaArgCysValValProAlaLeuHisLeuValAsnThrGluValAspPheGlyHisCysPheLeuLysTyrProTyrGluLysThrLeuGlnLeuAlaAsnGlnAspAspLeuProGlyPheTyrGluValGlnProGlnValCysGluGluValProThrValLeuPheSerSerProThrProSerGlyValIleSerProSerSerThrIleHisIleProLeuValLeuGluThrGlnValThrGlyGluHisArgSerThrValTyrIleSerIlePheGlySerGlnAspProProLeuValCysHisLeuLysSerAlaGlyGluGlyProValIleTyrValHisProAsnGlnValAspPheGlyAsnIleTyrValLeuLysAspSerSerArgIleLeuAsnLeuCysAsnGlnSerPheIleProAlaPhePheGlnAlaHisMetAlaHisLysLysSerLeuTrpThrIleGluProAsnGluGlyMetValProProGluThrAspValGlnLeuAlaLeuThrAlaAsnLeuAsnAspThrLeuThrPheLysAspCysValIleLeuAspIleGluAsnSerSerThrTyrArgIleProValGlnAlaSerGlyThrGlySerThrIleValSerAspLysProPheAlaProGluLeuAsnLeuGlyAlaHisPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016769" }, { "@id": "http://reg.genome.network/allele/PA2826222081", "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "A", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "NM_001198543.1:c.973A>T" ], "proteinEffect": { "hgvs": "NP_001185472.1:p.Lys325Ter", "hgvsWellDefined": "NP_001185472.1:p.Lys325_Arg940delinsThrTyrIleSerLeuAlaAsnGlnArgThrIleThrIleHisAsnArgSerAsnIleIleAlaHisPheLeuTrpLysValPheAlaThrGlnGlnGluGluAspArgGluLysTyrArgAlaCysAspAspLeuIleLysGluGluLysAspGluThrAspGluPhePheGluGluCysIleThrAspProLeuLeuArgGluHisLeuSerValLeuSerArgThrPheAlaAsnGlnArgArgLeuValGlnGlyAspSerLysLeuPhePheAsnAsnValPheThrValGluProLeuGluGlyAspValTrpProAsnSerSerAlaGluIleThrValTyrPheAsnProLeuGluAlaLysLeuTyrGlnGlnThrIleTyrCysAspIleLeuGlyArgGluIleArgLeuProLeuArgIleLysGlyGluGlyMetGlyProLysIleHisPheAsnPheGluLeuLeuAspIleGlyLysValPheThrGlySerAlaHisCysTyrGluAlaIleLeuTyrAsnLysGlySerIleAspAlaLeuPheAsnMetThrProProThrSerAlaLeuGlyAlaCysPheValPheSerProLysGluGlyIleIleGluProSerGlyValGlnAlaIleGlnIleSerPheSerSerThrIleLeuGlyAsnPheGluGluGluPheLeuValAsnValAsnGlySerProGluProValLysLeuThrIleArgGlyCysValIleGlyProThrPheHisPheAsnValProAlaLeuHisPheGlyAspValSerPheGlyPheProHisThrLeuIleCysSerLeuAsnAsnThrSerLeuIleProMetThrTyrLysLeuArgIleProGlyAspGlyLeuGlyHisLysSerIleSerTyrCysGluGlnHisValAspTyrLysArgProSerTrpThrLysGluGluIleSerSerMetLysProLysGluPheThrIleSerProAspCysGlyThrIleArgProGlnGlyPheAlaAlaIleArgValThrLeuCysSerAsnThrValGlnLysTyrGluLeuAlaLeuValValAspValGluGlyIleGlyGluGluValLeuAlaLeuLeuIleThrAlaArgCysValValProAlaLeuHisLeuValAsnThrGluValAspPheGlyHisCysPheLeuLysTyrProTyrGluLysThrLeuGlnLeuAlaAsnGlnAspAspLeuProGlyPheTyrGluValGlnProGlnValCysGluGluValProThrValLeuPheSerSerProThrProSerGlyValIleSerProSerSerThrIleHisIleProLeuValLeuGluThrGlnValThrGlyGluHisArgSerThrValTyrIleSerIlePheGlySerGlnAspProProLeuValCysHisLeuLysSerAlaGlyGluGlyProValIleTyrValHisProAsnGlnValAspPheGlyAsnIleTyrValLeuLysAspSerSerArgIleLeuAsnLeuCysAsnGlnSerPheIleProAlaPhePheGlnAlaHisMetAlaHisLysLysSerLeuTrpThrIleGluProAsnGluGlyMetValProProGluThrAspValGlnLeuAlaLeuThrAlaAsnLeuAsnAspThrLeuThrPheLysAspCysValIleLeuAspIleGluAsnSerSerThrTyrArgIleProValGlnAlaSerGlyThrGlySerThrIleValSerAspLysProPheAlaProGluLeuAsnLeuGlyAlaHisPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016770" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "A", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "NM_001270974.1:c.922A>T" ], "proteinEffect": { "hgvs": "NP_001257903.1:p.Lys308Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS020451" }, { "@id": "http://reg.genome.network/allele/PA2829873593", "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "A", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "NM_017558.4:c.922A>T" ], "proteinEffect": { "hgvs": "NP_060028.2:p.Lys308Ter", "hgvsWellDefined": "NP_060028.2:p.Lys308_Gly1017delinsThrTyrIleSerLeuAlaAsnGlnArgThrIleThrIleHisAsnArgSerAsnIleIleAlaHisPheLeuTrpLysValPheAlaThrGlnGlnGluGluAspArgGluLysTyrArgAlaCysAspAspLeuIleLysGluGluLysAspGluThrAspGluPhePheGluGluCysIleThrAspProLeuLeuArgGluHisLeuSerValLeuSerArgThrPheAlaAsnGlnArgArgLeuValGlnGlyAspSerLysLeuPhePheAsnAsnValPheThrValGluProLeuGluGlyAspValTrpProAsnSerSerAlaGluIleThrValTyrPheAsnProLeuGluAlaLysLeuTyrGlnGlnThrIleTyrCysAspIleLeuGlyArgGluIleArgLeuProLeuArgIleLysGlyGluGlyMetGlyProLysIleHisPheAsnPheGluLeuLeuAspIleGlyLysValPheThrGlySerAlaHisCysTyrGluAlaIleLeuTyrAsnLysGlySerIleAspAlaLeuPheAsnMetThrProProThrSerAlaLeuGlyAlaCysPheValPheSerProLysGluGlyIleIleGluProSerGlyValGlnAlaIleGlnIleSerPheSerSerThrIleLeuGlyAsnPheGluGluGluPheLeuValAsnValAsnGlySerProGluProValLysLeuThrIleArgGlyCysValIleGlyProThrPheHisPheAsnValProAlaLeuHisPheGlyAspValSerPheGlyPheProHisThrLeuIleCysSerLeuAsnAsnThrSerLeuIleProMetThrTyrLysLeuArgIleProGlyAspGlyLeuGlyHisLysSerIleSerTyrCysGluGlnHisValAspTyrLysArgProSerTrpThrLysGluGluIleSerSerMetLysProLysGluPheThrIleSerProAspCysGlyThrIleArgProGlnGlyPheAlaAlaIleArgValThrLeuCysSerAsnThrValGlnLysTyrGluLeuAlaLeuValValAspValGluGlyIleGlyGluGluValLeuAlaLeuLeuIleThrAlaArgCysValValProAlaLeuHisLeuValAsnThrGluValAspPheGlyHisCysPheLeuLysTyrProTyrGluLysThrLeuGlnLeuAlaAsnGlnAspAspLeuProGlyPheTyrGluValGlnProGlnValCysGluGluValProThrValLeuPheSerSerProThrProSerGlyValIleSerProSerSerThrIleHisIleProLeuValLeuGluThrGlnValThrGlyGluHisArgSerThrValTyrIleSerIlePheGlySerGlnAspProProLeuValCysHisLeuLysSerAlaGlyGluGlyProValIleTyrValHisProAsnGlnValAspPheGlyAsnIleTyrValLeuLysAspSerSerArgIleLeuAsnLeuCysAsnGlnSerPheIleProAlaPhePheGlnAlaHisMetAlaHisLysLysSerLeuTrpThrIleGluProAsnGluGlyMetValProProGluThrAspValGlnLeuAlaLeuThrAlaAsnLeuAsnAspThrLeuThrPheLysAspCysValIleLeuAspIleGluAsnSerSerThrTyrArgIleProValGlnAlaSerGlyThrGlySerThrIleValSerAspLysProPheAlaProGluLeuAsnLeuGlyAlaHisPheSerLeuAspThrHisTyrTyrHisPheLysLeuIleAsnLysGlyArgArgIleGlnGlnLeuPheTrpMetAsnAspSerPheArgProGlnAlaLysLeuSerLysLysGlyArgValLysLysGlyHisAlaHisValGlnProGlnProSerGlySerGlnGluProArgAspProGlnSerProValPheHisLeuHisProAlaSerMetGluLeuTyrProGlyGlnAlaIleAspValIleLeuGluGlyTyrSerAlaThrProArgValArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035005" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "A", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "XM_006721206.2:c.973A>T" ], "proteinEffect": { "hgvs": "XP_006721269.1:p.Lys325Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS073990" }, { "coordinates": [ { "allele": "T", "end": 1032, "referenceAllele": "A", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "XM_011523146.1:c.1003A>T" ], "proteinEffect": { "hgvs": "XP_011521448.1:p.Lys335Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS090286" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "A", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "XM_011523147.1:c.973A>T" ], "proteinEffect": { "hgvs": "XP_011521449.1:p.Lys325Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS090287" }, { "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "A", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "XM_011523148.1:c.922A>T" ], "proteinEffect": { "hgvs": "XP_011521450.1:p.Lys308Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS090288" }, { "coordinates": [ { "allele": "T", "end": 1036, "referenceAllele": "A", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "XM_011523149.1:c.922A>T" ], "proteinEffect": { "hgvs": "XP_011521451.1:p.Lys308Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS090289" }, { "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "A", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "XM_011523150.1:c.922A>T" ], "proteinEffect": { "hgvs": "XP_011521452.1:p.Lys308Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS090290" }, { "coordinates": [ { "allele": "T", "end": 1032, "referenceAllele": "A", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "XM_011523151.1:c.1003A>T" ], "proteinEffect": { "hgvs": "XP_011521453.1:p.Lys335Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS090291" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "A", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "NM_001270974.2:c.922A>T" ], "proteinEffect": { "hgvs": "NP_001257903.1:p.Lys308Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS512036", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393567.7:c.922A>T" }, "RefSeq": { "hgvs": "NM_001270974.2:c.922A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377197.2:p.Lys308Ter" }, "RefSeq": { "hgvs": "NP_001257903.1:p.Lys308Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "A", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "XM_006721206.3:c.973A>T" ], "proteinEffect": { "hgvs": "XP_006721269.1:p.Lys325Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS540250" }, { "coordinates": [ { "allele": "T", "end": 1033, "referenceAllele": "A", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "XM_011523146.2:c.1003A>T" ], "proteinEffect": { "hgvs": "XP_011521448.1:p.Lys335Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546905" }, { "coordinates": [ { "allele": "T", "end": 1032, "referenceAllele": "A", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "XM_011523151.2:c.1003A>T" ], "proteinEffect": { "hgvs": "XP_011521453.1:p.Lys335Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546906" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "A", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "XM_017023346.2:c.1042A>T" ], "proteinEffect": { "hgvs": "XP_016878835.1:p.Lys348Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS574121" }, { "@id": "http://reg.genome.network/allele/PA2829873593", "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "A", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN019368", "geneNCBI_id": 54768, "geneSymbol": "HYDIN", "hgvs": [ "NM_017558.5:c.922A>T" ], "proteinEffect": { "hgvs": "NP_060028.2:p.Lys308Ter", "hgvsWellDefined": "NP_060028.2:p.Lys308_Gly1017delinsThrTyrIleSerLeuAlaAsnGlnArgThrIleThrIleHisAsnArgSerAsnIleIleAlaHisPheLeuTrpLysValPheAlaThrGlnGlnGluGluAspArgGluLysTyrArgAlaCysAspAspLeuIleLysGluGluLysAspGluThrAspGluPhePheGluGluCysIleThrAspProLeuLeuArgGluHisLeuSerValLeuSerArgThrPheAlaAsnGlnArgArgLeuValGlnGlyAspSerLysLeuPhePheAsnAsnValPheThrValGluProLeuGluGlyAspValTrpProAsnSerSerAlaGluIleThrValTyrPheAsnProLeuGluAlaLysLeuTyrGlnGlnThrIleTyrCysAspIleLeuGlyArgGluIleArgLeuProLeuArgIleLysGlyGluGlyMetGlyProLysIleHisPheAsnPheGluLeuLeuAspIleGlyLysValPheThrGlySerAlaHisCysTyrGluAlaIleLeuTyrAsnLysGlySerIleAspAlaLeuPheAsnMetThrProProThrSerAlaLeuGlyAlaCysPheValPheSerProLysGluGlyIleIleGluProSerGlyValGlnAlaIleGlnIleSerPheSerSerThrIleLeuGlyAsnPheGluGluGluPheLeuValAsnValAsnGlySerProGluProValLysLeuThrIleArgGlyCysValIleGlyProThrPheHisPheAsnValProAlaLeuHisPheGlyAspValSerPheGlyPheProHisThrLeuIleCysSerLeuAsnAsnThrSerLeuIleProMetThrTyrLysLeuArgIleProGlyAspGlyLeuGlyHisLysSerIleSerTyrCysGluGlnHisValAspTyrLysArgProSerTrpThrLysGluGluIleSerSerMetLysProLysGluPheThrIleSerProAspCysGlyThrIleArgProGlnGlyPheAlaAlaIleArgValThrLeuCysSerAsnThrValGlnLysTyrGluLeuAlaLeuValValAspValGluGlyIleGlyGluGluValLeuAlaLeuLeuIleThrAlaArgCysValValProAlaLeuHisLeuValAsnThrGluValAspPheGlyHisCysPheLeuLysTyrProTyrGluLysThrLeuGlnLeuAlaAsnGlnAspAspLeuProGlyPheTyrGluValGlnProGlnValCysGluGluValProThrValLeuPheSerSerProThrProSerGlyValIleSerProSerSerThrIleHisIleProLeuValLeuGluThrGlnValThrGlyGluHisArgSerThrValTyrIleSerIlePheGlySerGlnAspProProLeuValCysHisLeuLysSerAlaGlyGluGlyProValIleTyrValHisProAsnGlnValAspPheGlyAsnIleTyrValLeuLysAspSerSerArgIleLeuAsnLeuCysAsnGlnSerPheIleProAlaPhePheGlnAlaHisMetAlaHisLysLysSerLeuTrpThrIleGluProAsnGluGlyMetValProProGluThrAspValGlnLeuAlaLeuThrAlaAsnLeuAsnAspThrLeuThrPheLysAspCysValIleLeuAspIleGluAsnSerSerThrTyrArgIleProValGlnAlaSerGlyThrGlySerThrIleValSerAspLysProPheAlaProGluLeuAsnLeuGlyAlaHisPheSerLeuAspThrHisTyrTyrHisPheLysLeuIleAsnLysGlyArgArgIleGlnGlnLeuPheTrpMetAsnAspSerPheArgProGlnAlaLysLeuSerLysLysGlyArgValLysLysGlyHisAlaHisValGlnProGlnProSerGlySerGlnGluProArgAspProGlnSerProValPheHisLeuHisProAlaSerMetGluLeuTyrProGlyGlnAlaIleAspValIleLeuGluGlyTyrSerAlaThrProArgValArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697823" } ], "type": "nucleotide" }