{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397089104", "communityStandardTitle": [ "NM_000512.5(GALNS):c.294C>A (p.Tyr98Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3019767[alleleid]", "alleleId": 3019767, "preferredName": "NM_000512.5(GALNS):c.294C>A (p.Tyr98Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2864869", "RCV": [ "RCV003597598" ], "variationId": 2864869 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.88908330G>T?assembly=hg19", "id": "chr16:g.88908330G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.88841922G>T?assembly=hg38", "id": "chr16:g.88841922G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1487568635", "rs": 1487568635 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 88841922, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS743065", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268695.10:c.294C>A" }, "RefSeq": { "hgvs": "NM_000512.5:c.294C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268695.5:p.Tyr98Ter" }, "RefSeq": { "hgvs": "NP_000503.1:p.Tyr98Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000268695.9:c.294C>A" ], "proteinEffect": { "hgvs": "ENSP00000268695.5:p.Tyr98Ter", "hgvsWellDefined": 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], "referenceSequence": "http://reg.genome.network/refseq/RS378708" }, { "coordinates": [ { "allele": "A", "end": 119, "referenceAllele": "C", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000567525.5:c.119C>A" ], "proteinEffect": { "hgvs": "ENSP00000454484.1:p.Thr40Lys", "hgvsWellDefined": "ENSP00000454484.1:p.Thr40Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS380166" }, { "coordinates": [ { "allele": "A", "end": 124, "referenceAllele": "C", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000567779.1:n.124C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS380342" }, { "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000568613.5:c.413C>A" ], "proteinEffect": { "hgvs": "ENSP00000457921.1:n.413C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS380908" }, { "@id": "http://reg.genome.network/allele/PA2741815961", "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_000512.4:c.294C>A" ], "proteinEffect": { "hgvs": "NP_000503.1:p.Tyr98Ter", "hgvsWellDefined": "NP_000503.1:p.Tyr98_His522delinsThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006568" }, { "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256301.2:c.294C>A" ], "proteinEffect": { "hgvs": "XP_005256358.1:p.Tyr98Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS061259" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256302.1:c.312C>A" ], "proteinEffect": { "hgvs": "XP_005256359.1:p.Tyr104Ter", "hgvsWellDefined": "XP_005256359.1:p.Tyr104_His528delinsThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061260" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522982.1:c.312C>A" ], "proteinEffect": { "hgvs": "XP_011521284.1:p.Tyr104Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS090123" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522984.1:c.312C>A" ], "proteinEffect": { "hgvs": "XP_011521286.1:p.Tyr104Ter", "hgvsWellDefined": "XP_011521286.1:p.Tyr104_Thr508delinsThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090124" }, { "coordinates": [ { "allele": "A", "end": 263, "referenceAllele": "C", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323543.1:c.-262C>A" ], "proteinEffect": { "hgvs": "NP_001310472.1:n.-262C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS515441" }, { "@id": "http://reg.genome.network/allele/PA2827194226", "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323544.1:c.312C>A" ], "proteinEffect": { "hgvs": "NP_001310473.1:p.Tyr104Ter", "hgvsWellDefined": "NP_001310473.1:p.Tyr104_His528delinsThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515442" }, { "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256301.3:c.294C>A" ], "proteinEffect": { "hgvs": "XP_005256358.1:p.Tyr98Ter", "hgvsWellDefined": "XP_005256358.1:p.Tyr98_Pro575delinsThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534454" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522982.2:c.312C>A" ], "proteinEffect": { "hgvs": "XP_011521284.1:p.Tyr104Ter", "hgvsWellDefined": "XP_011521284.1:p.Tyr104_Pro581delinsThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546838" }, { "coordinates": [ { "allele": "A", "end": 2714, "referenceAllele": "C", "start": 2713 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023111.2:c.312C>A" ], "proteinEffect": { "hgvs": "XP_016878600.1:p.Tyr104Ter", "hgvsWellDefined": "XP_016878600.1:p.Tyr104_Leu511delinsThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetGlyProCysAspAspLeuGlnThrProGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573926" }, { "coordinates": [ { "allele": "A", "end": 2714, "referenceAllele": "C", "start": 2713 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023112.2:c.312C>A" ], "proteinEffect": { "hgvs": "XP_016878601.1:p.Tyr104Ter", "hgvsWellDefined": "XP_016878601.1:p.Tyr104_Thr508delinsThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573927" }, { "coordinates": [ { "allele": "A", "end": 241, "referenceAllele": "C", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023113.1:c.-262C>A" ], "proteinEffect": { "hgvs": "XP_016878602.1:n.-262C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS573928" }, { "@id": "http://reg.genome.network/allele/PA2741815961", "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_000512.5:c.294C>A" ], "proteinEffect": { "hgvs": "NP_000503.1:p.Tyr98Ter", "hgvsWellDefined": "NP_000503.1:p.Tyr98_His522delinsThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662466", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268695.10:c.294C>A" }, "RefSeq": { "hgvs": "NM_000512.5:c.294C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268695.5:p.Tyr98Ter" }, "RefSeq": { "hgvs": "NP_000503.1:p.Tyr98Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "C", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323543.2:c.-262C>A" ], "proteinEffect": { "hgvs": "NP_001310472.1:n.-262C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS686042" }, { "@id": "http://reg.genome.network/allele/PA2827194226", "coordinates": [ { "allele": "A", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323544.2:c.312C>A" ], "proteinEffect": { "hgvs": "NP_001310473.1:p.Tyr104Ter", "hgvsWellDefined": "NP_001310473.1:p.Tyr104_His528delinsThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686043" } ], "type": "nucleotide" }