{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA256115", "communityStandardTitle": [ "NM_000203.5(IDUA):c.928C>T (p.Gln310Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26954[alleleid]", "alleleId": 26954, "preferredName": "NM_000203.5(IDUA):c.928C>T (p.Gln310Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11915", "RCV": [ "RCV000012690" ], "variationId": 11915 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.995905C>T?assembly=hg19", "id": "chr4:g.995905C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1002117C>T?assembly=hg38", "id": "chr4:g.1002117C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121965023", "rs": 121965023 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1002117-C-T?dataset=gnomad_r4", "id": "4-1002117-C-T", "variant": "4:1002117 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 1002117, "referenceAllele": "C", "start": 1002116 } ], "hgvs": [ "NC_000004.12:g.1002117C>T", "CM000666.2:g.1002117C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 995905, "referenceAllele": "C", "start": 995904 } ], "hgvs": [ "NC_000004.11:g.995905C>T", "CM000666.1:g.995905C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 985905, "referenceAllele": "C", "start": 985904 } ], "hgvs": [ "NC_000004.10:g.985905C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 20121, "referenceAllele": "C", "start": 20120 } ], "hgvs": [ "NG_008103.1:g.20121C>T" ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS070402" }, { "coordinates": [ { "allele": "T", "end": 928, "referenceAllele": "C", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513459.1:c.887C>T" ], "proteinEffect": { "hgvs": "XP_011511761.1:p.Thr296Ile", "hgvsWellDefined": "XP_011511761.1:p.Thr296Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.787C>T" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Gln263Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.721C>T" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Gln241Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "T", "end": 1537, "referenceAllele": "C", "start": 1536 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Gln214Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Gln214Ter", "hgvsWellDefined": "XP_011511765.1:p.Gln214_Pro557delinsProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "T", "end": 997, "referenceAllele": "C", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.997C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA256116", "coordinates": [ { "allele": "T", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.928C>T" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Gln310Ter", "hgvsWellDefined": "NP_000194.2:p.Gln310_Pro653delinsProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.928C>T" }, "RefSeq": { "hgvs": "NM_000203.5:c.928C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Gln310Ter" }, "RefSeq": { "hgvs": "NP_000194.2:p.Gln310Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828097211", "coordinates": [ { "allele": "T", "end": 984, "referenceAllele": "C", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.532C>T" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Gln178Ter", "hgvsWellDefined": "NP_001350505.1:p.Gln178_Pro521delinsProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.721C>T" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Gln241Ter", "hgvsWellDefined": "XP_011511763.1:p.Gln241_Pro584delinsProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.-33C>T" ], "proteinEffect": { "hgvs": "XP_016863652.1:n.-33C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }