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"http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_024452241.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_024308009.1:p.Arg293Ter", "hgvsWellDefined": "XP_024308009.1:p.Arg293_Leu387delinsGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysAlaLeuProThrValIleProLeuGlnThrLeuProAlaThrProProAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585738" }, { "@id": "http://reg.genome.network/allele/PA658827152", "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_000487.6:c.877C>T" ], "proteinEffect": { "hgvs": "NP_000478.3:p.Arg293Ter", "hgvsWellDefined": "NP_000478.3:p.Arg293_Ala509delinsGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662459", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216124.10:c.877C>T" }, "RefSeq": { "hgvs": "NM_000487.6:c.877C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216124.5:p.Arg293Ter" }, "RefSeq": { "hgvs": "NP_000478.3:p.Arg293Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825518402", "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085425.3:c.877C>T" ], "proteinEffect": { "hgvs": "NP_001078894.2:p.Arg293Ter", "hgvsWellDefined": "NP_001078894.2:p.Arg293_Ala509delinsGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676375" }, { "@id": "http://reg.genome.network/allele/PA2825519109", "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085426.3:c.877C>T" ], "proteinEffect": { "hgvs": "NP_001078895.2:p.Arg293Ter", "hgvsWellDefined": "NP_001078895.2:p.Arg293_Ala509delinsGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676376" }, { "@id": "http://reg.genome.network/allele/PA915970710", "coordinates": [ { "allele": "T", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085427.3:c.877C>T" ], "proteinEffect": { "hgvs": "NP_001078896.2:p.Arg293Ter", "hgvsWellDefined": "NP_001078896.2:p.Arg293_Ala509delinsGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676377" }, { "@id": "http://reg.genome.network/allele/PA2825520043", "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085428.3:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001078897.1:p.Arg207Ter", "hgvsWellDefined": "NP_001078897.1:p.Arg207_Ala423delinsGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676378" }, { "@id": "http://reg.genome.network/allele/PA2828065268", "coordinates": [ { "allele": "T", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001362782.2:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001349711.1:p.Arg207Ter", "hgvsWellDefined": "NP_001349711.1:p.Arg207_Ala423delinsGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690538" } ], "type": "nucleotide" }