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"http://reg.genome.network/refseq/RS523060" }, { "coordinates": [ { "allele": "A", "end": 1064, "referenceAllele": "C", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_011530691.3:c.731C>A" ], "proteinEffect": { "hgvs": "XP_011528993.1:p.Ser244Ter", "hgvsWellDefined": "XP_011528993.1:p.Ser244_Leu387delinsGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysAlaLeuProThrValIleProLeuGlnThrLeuProAlaThrProProAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550069" }, { "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "C", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_017028800.1:c.731C>A" ], "proteinEffect": { "hgvs": "XP_016884289.1:p.Ser244Ter", "hgvsWellDefined": "XP_016884289.1:p.Ser244_Ala547delinsGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlyAsnProSerProTrpIleProProProAspLeuLeuThrProProArgSerProArgSerLeuAlaProProLeuAlaLeuAlaLeuCysThrGluLeuAlaProSerProGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578460" }, { "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "C", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_024452241.1:c.731C>A" ], "proteinEffect": { "hgvs": "XP_024308009.1:p.Ser244Ter", "hgvsWellDefined": "XP_024308009.1:p.Ser244_Leu387delinsGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysAlaLeuProThrValIleProLeuGlnThrLeuProAlaThrProProAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585738" }, { "@id": "http://reg.genome.network/allele/PA2825188793", "coordinates": [ { "allele": "A", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_000487.6:c.731C>A" ], "proteinEffect": { "hgvs": "NP_000478.3:p.Ser244Ter", "hgvsWellDefined": 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"ENST00000216124.10:c.731C>A" }, "RefSeq": { "hgvs": "NM_000487.6:c.731C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216124.5:p.Ser244Ter" }, "RefSeq": { "hgvs": "NP_000478.3:p.Ser244Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825518332", "coordinates": [ { "allele": "A", "end": 999, "referenceAllele": "C", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085425.3:c.731C>A" ], "proteinEffect": { "hgvs": "NP_001078894.2:p.Ser244Ter", "hgvsWellDefined": "NP_001078894.2:p.Ser244_Ala509delinsGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676375" }, { "@id": "http://reg.genome.network/allele/PA2825519040", "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "C", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085426.3:c.731C>A" ], "proteinEffect": { "hgvs": "NP_001078895.2:p.Ser244Ter", "hgvsWellDefined": "NP_001078895.2:p.Ser244_Ala509delinsGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676376" }, { "@id": "http://reg.genome.network/allele/PA2573177983", "coordinates": [ { "allele": "A", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085427.3:c.731C>A" ], "proteinEffect": { "hgvs": "NP_001078896.2:p.Ser244Ter", "hgvsWellDefined": "NP_001078896.2:p.Ser244_Ala509delinsGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676377" }, { "@id": "http://reg.genome.network/allele/PA2825519974", "coordinates": [ { "allele": "A", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085428.3:c.473C>A" ], "proteinEffect": { "hgvs": "NP_001078897.1:p.Ser158Ter", "hgvsWellDefined": "NP_001078897.1:p.Ser158_Ala423delinsGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676378" }, { "@id": "http://reg.genome.network/allele/PA2828065199", "coordinates": [ { "allele": "A", "end": 669, "referenceAllele": "C", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001362782.2:c.473C>A" ], "proteinEffect": { "hgvs": "NP_001349711.1:p.Ser158Ter", "hgvsWellDefined": "NP_001349711.1:p.Ser158_Ala423delinsGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690538" } ], "type": "nucleotide" }