{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412181697", "communityStandardTitle": [ "NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1399952[alleleid]", "alleleId": 1399952, "preferredName": "NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1421225", "RCV": [ "RCV001916815" ], "variationId": 1421225 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.51065789G>T?assembly=hg19", "id": "chr22:g.51065789G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50627361G>T?assembly=hg38", "id": "chr22:g.50627361G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/780399417", "rs": 780399417 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-50627361-G-T?dataset=gnomad_r4", "id": "22-50627361-G-T", "variant": "22:50627361 G / T" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 50627361, "referenceAllele": "G", "start": 50627360 } ], "hgvs": [ "NC_000022.11:g.50627361G>T", "CM000684.2:g.50627361G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 51065789, "referenceAllele": "G", "start": 51065788 } ], "hgvs": [ "NC_000022.10:g.51065789G>T", "CM000684.1:g.51065789G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 49412655, "referenceAllele": "G", "start": 49412654 } ], "hgvs": [ "NC_000022.9:g.49412655G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "A", "end": 5819, "referenceAllele": "C", "start": 5818 } ], "hgvs": [ "NG_009260.2:g.5819C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001525" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 643, "referenceAllele": "C", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "ENST00000216124.10:c.270C>A" ], "proteinEffect": { "hgvs": "ENSP00000216124.5:p.Tyr90Ter", "hgvsWellDefined": "ENSP00000216124.5:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740272", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216124.10:c.270C>A" }, "RefSeq": { "hgvs": "NM_000487.6:c.270C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216124.5:p.Tyr90Ter" }, "RefSeq": { "hgvs": "NP_000478.3:p.Tyr90Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "ENST00000216124.9:c.270C>A" ], "proteinEffect": { "hgvs": "ENSP00000216124.5:p.Tyr90Ter", "hgvsWellDefined": "ENSP00000216124.5:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247952" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "ENST00000356098.9:c.270C>A" ], "proteinEffect": { "hgvs": "ENSP00000348406.5:p.Tyr90Ter", "hgvsWellDefined": "ENSP00000348406.5:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263645" }, { "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "C", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "ENST00000395619.3:c.270C>A" ], "proteinEffect": { "hgvs": "ENSP00000378981.3:p.Tyr90Ter", "hgvsWellDefined": "ENSP00000378981.3:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276795" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "ENST00000395621.7:c.270C>A" ], "proteinEffect": { "hgvs": "ENSP00000378983.3:p.Tyr90Ter", "hgvsWellDefined": "ENSP00000378983.3:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276797" }, { "coordinates": [ { "allele": "A", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "ENST00000453344.6:c.12C>A" ], "proteinEffect": { "hgvs": "ENSP00000412542.2:p.Tyr4Ter", "hgvsWellDefined": "ENSP00000412542.2:p.Tyr4_Ala423delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302061" }, { "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "ENST00000551731.1:n.661C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS368834" }, { "@id": "http://reg.genome.network/allele/PA2825188381", "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_000487.5:c.270C>A" ], "proteinEffect": { "hgvs": "NP_000478.3:p.Tyr90Ter", "hgvsWellDefined": "NP_000478.3:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006541" }, { "@id": "http://reg.genome.network/allele/PA2825518091", "coordinates": [ { "allele": "A", "end": 559, "referenceAllele": "C", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085425.2:c.270C>A" ], "proteinEffect": { "hgvs": "NP_001078894.2:p.Tyr90Ter", "hgvsWellDefined": "NP_001078894.2:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010459" }, { "@id": "http://reg.genome.network/allele/PA2825518800", "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085426.2:c.270C>A" ], "proteinEffect": { "hgvs": "NP_001078895.2:p.Tyr90Ter", "hgvsWellDefined": "NP_001078895.2:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010460" }, { "@id": "http://reg.genome.network/allele/PA2573177936", "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085427.2:c.270C>A" ], "proteinEffect": { "hgvs": "NP_001078896.2:p.Tyr90Ter", "hgvsWellDefined": "NP_001078896.2:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010461" }, { "@id": "http://reg.genome.network/allele/PA2825519733", "coordinates": [ { "allele": "A", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085428.2:c.12C>A" ], "proteinEffect": { "hgvs": "NP_001078897.1:p.Tyr4Ter", "hgvsWellDefined": "NP_001078897.1:p.Tyr4_Ala423delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010462" }, { "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_011530690.1:c.12C>A" ], "proteinEffect": { "hgvs": "XP_011528992.1:p.Tyr4Ter", "hgvsWellDefined": "XP_011528992.1:p.Tyr4_Ala423delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097733" }, { "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_011530691.1:c.270C>A" ], "proteinEffect": { "hgvs": "XP_011528993.1:p.Tyr90Ter", "hgvsWellDefined": "XP_011528993.1:p.Tyr90_Leu387delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysAlaLeuProThrValIleProLeuGlnThrLeuProAlaThrProProAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097734" }, { "@id": "http://reg.genome.network/allele/PA2828065045", "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "C", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001362782.1:c.12C>A" ], "proteinEffect": { "hgvs": "NP_001349711.1:p.Tyr4Ter", "hgvsWellDefined": "NP_001349711.1:p.Tyr4_Ala423delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523060" }, { "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_011530691.3:c.270C>A" ], "proteinEffect": { "hgvs": "XP_011528993.1:p.Tyr90Ter", "hgvsWellDefined": "XP_011528993.1:p.Tyr90_Leu387delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysAlaLeuProThrValIleProLeuGlnThrLeuProAlaThrProProAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550069" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_017028800.1:c.270C>A" ], "proteinEffect": { "hgvs": "XP_016884289.1:p.Tyr90Ter", "hgvsWellDefined": "XP_016884289.1:p.Tyr90_Ala547delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlyAsnProSerProTrpIleProProProAspLeuLeuThrProProArgSerProArgSerLeuAlaProProLeuAlaLeuAlaLeuCysThrGluLeuAlaProSerProGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578460" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_024452241.1:c.270C>A" ], "proteinEffect": { "hgvs": "XP_024308009.1:p.Tyr90Ter", "hgvsWellDefined": "XP_024308009.1:p.Tyr90_Leu387delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysAlaLeuProThrValIleProLeuGlnThrLeuProAlaThrProProAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585738" }, { "@id": "http://reg.genome.network/allele/PA2825188381", "coordinates": [ { "allele": "A", "end": 643, "referenceAllele": "C", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_000487.6:c.270C>A" ], "proteinEffect": { "hgvs": "NP_000478.3:p.Tyr90Ter", "hgvsWellDefined": "NP_000478.3:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662459", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216124.10:c.270C>A" }, "RefSeq": { "hgvs": "NM_000487.6:c.270C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216124.5:p.Tyr90Ter" }, "RefSeq": { "hgvs": "NP_000478.3:p.Tyr90Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825518091", "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085425.3:c.270C>A" ], "proteinEffect": { "hgvs": "NP_001078894.2:p.Tyr90Ter", "hgvsWellDefined": "NP_001078894.2:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676375" }, { "@id": "http://reg.genome.network/allele/PA2825518800", "coordinates": [ { "allele": "A", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085426.3:c.270C>A" ], "proteinEffect": { "hgvs": "NP_001078895.2:p.Tyr90Ter", "hgvsWellDefined": "NP_001078895.2:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676376" }, { "@id": "http://reg.genome.network/allele/PA2573177936", "coordinates": [ { "allele": "A", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085427.3:c.270C>A" ], "proteinEffect": { "hgvs": "NP_001078896.2:p.Tyr90Ter", "hgvsWellDefined": "NP_001078896.2:p.Tyr90_Ala509delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676377" }, { "@id": "http://reg.genome.network/allele/PA2825519733", "coordinates": [ { "allele": "A", "end": 253, "referenceAllele": "C", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085428.3:c.12C>A" ], "proteinEffect": { "hgvs": "NP_001078897.1:p.Tyr4Ter", "hgvsWellDefined": "NP_001078897.1:p.Tyr4_Ala423delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676378" }, { "@id": "http://reg.genome.network/allele/PA2828065045", "coordinates": [ { "allele": "A", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001362782.2:c.12C>A" ], "proteinEffect": { "hgvs": "NP_001349711.1:p.Tyr4Ter", "hgvsWellDefined": "NP_001349711.1:p.Tyr4_Ala423delinsProGlyValLeuValProSerSerArgGlyGlyLeuProLeuGluGluValThrValAlaGluValLeuAlaAlaArgGlyTyrLeuThrGlyMetAlaGlyLysTrpHisLeuGlyValGlyProGluGlyAlaPheLeuProProHisGlnGlyPheHisArgPheLeuGlyIleProTyrSerHisAspGlnGlyProCysGlnAsnLeuThrCysPheProProAlaThrProCysAspGlyGlyCysAspGlnGlyLeuValProIleProLeuLeuAlaAsnLeuSerValGluAlaGlnProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690538" } ], "type": "nucleotide" }