{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367645474", "communityStandardTitle": [ "NM_000181.4(GUSB):c.916C>T (p.Gln306Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2959312[alleleid]", "alleleId": 2959312, "preferredName": "NM_000181.4(GUSB):c.916C>T (p.Gln306Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2799488", "RCV": [ "RCV003601350" ], "variationId": 2799488 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65440055G>A?assembly=hg19", "id": "chr7:g.65440055G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65975068G>A?assembly=hg38", "id": "chr7:g.65975068G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1156563889", "rs": 1156563889 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65975068, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS255527" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "C", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000421103.5:c.478C>T" ], "proteinEffect": { "hgvs": "ENSP00000391390.1:p.Gln160Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000465785.5:n.299-364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS309316" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000466883.5:n.1093C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310133" }, { "coordinates": [ { "allele": "T", "end": 303, "endIntronDirection": "-", "endIntronOffset": 363, "referenceAllele": "C", "start": 303, "startIntronDirection": "-", "startIntronOffset": 364 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000475316.5:n.304-364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS316626" }, { "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000476486.5:n.720C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317519" }, { "coordinates": [ { "allele": "T", "end": 188, "endIntronDirection": "-", "endIntronOffset": 363, "referenceAllele": "C", "start": 188, "startIntronDirection": "-", "startIntronOffset": 364 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000479038.1:n.189-364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319507" }, { "@id": "http://reg.genome.network/allele/PA2825094831", "coordinates": [ { "allele": "T", "end": 1047, "referenceAllele": "C", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_000181.3:c.916C>T" ], "proteinEffect": { "hgvs": "NP_000172.2:p.Gln306Ter", "hgvsWellDefined": "NP_000172.2:p.Gln306_Thr651delinsLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006243" }, { "@id": "http://reg.genome.network/allele/PA2826687662", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001284290.1:c.478C>T" ], "proteinEffect": { "hgvs": "NP_001271219.1:p.Gln160Ter", "hgvsWellDefined": "NP_001271219.1:p.Gln160_Thr505delinsLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022544" }, { "@id": "http://reg.genome.network/allele/PA2826822206", "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293104.1:c.346C>T" ], "proteinEffect": { "hgvs": "NP_001280033.1:p.Gln116Ter", "hgvsWellDefined": "NP_001280033.1:p.Gln116_Thr461delinsLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024484" }, { "@id": "http://reg.genome.network/allele/PA2741853206", "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293105.1:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001280034.1:p.Gln87Ter", "hgvsWellDefined": "NP_001280034.1:p.Gln87_Thr432delinsLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024485" }, { "coordinates": [ { "allele": "T", "end": 1047, "referenceAllele": "C", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NR_120531.1:n.1047C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055408" }, { "coordinates": [ { "allele": "T", "end": 1038, "endIntronDirection": "-", "endIntronOffset": 363, "referenceAllele": "C", "start": 1038, "startIntronDirection": "-", "startIntronOffset": 364 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_005250297.3:c.913-364C>T" ], "proteinEffect": { "hgvs": "XP_005250354.1:n.913-364C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS059136" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_011516113.1:c.415C>T" ], "proteinEffect": { "hgvs": "XP_011514415.1:p.Gln139Ter", "hgvsWellDefined": "XP_011514415.1:p.Gln139_Thr484delinsLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083316" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_011516114.1:c.244C>T" ], "proteinEffect": { "hgvs": "XP_011514416.1:p.Gln82Ter", "hgvsWellDefined": "XP_011514416.1:p.Gln82_Thr427delinsLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083317" }, { "coordinates": [ { "allele": "T", "end": 1042, "referenceAllele": "C", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_927461.1:n.1042C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS123866" }, { "coordinates": [ { "allele": "T", "end": 957, "endIntronDirection": "-", "endIntronOffset": 363, "referenceAllele": "C", "start": 957, "startIntronDirection": "-", "startIntronOffset": 364 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_005250297.4:c.913-364C>T" ], "proteinEffect": { "hgvs": "XP_005250354.1:n.913-364C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS533417" }, { "coordinates": [ { "allele": "T", "end": 940, "referenceAllele": "C", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_011516114.2:c.244C>T" ], "proteinEffect": { "hgvs": "XP_011514416.1:p.Gln82Ter", "hgvsWellDefined": "XP_011514416.1:p.Gln82_Thr427delinsLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544028" }, { "coordinates": [ { "allele": "T", "end": 787, "endIntronDirection": "-", "endIntronOffset": 363, "referenceAllele": "C", "start": 787, "startIntronDirection": "-", "startIntronOffset": 364 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_017012091.1:c.412-364C>T" ], "proteinEffect": { "hgvs": "XP_016867580.1:n.412-364C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS565781" }, { "coordinates": [ { "allele": "T", "end": 774, "endIntronDirection": "-", "endIntronOffset": 363, "referenceAllele": "C", "start": 774, "startIntronDirection": "-", "startIntronOffset": 364 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_017012092.1:c.343-364C>T" ], "proteinEffect": { "hgvs": "XP_016867581.1:n.343-364C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS565782" }, { "coordinates": [ { "allele": "T", "end": 936, "endIntronDirection": "-", "endIntronOffset": 363, "referenceAllele": "C", "start": 936, "startIntronDirection": "-", "startIntronOffset": 364 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_017012093.2:c.241-364C>T" ], "proteinEffect": { "hgvs": "XP_016867582.1:n.241-364C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS565783" }, { "coordinates": [ { "allele": "T", "end": 957, "endIntronDirection": "-", "endIntronOffset": 363, "referenceAllele": "C", "start": 957, "startIntronDirection": "-", "startIntronOffset": 364 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_001744658.2:n.958-364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593381" }, { "coordinates": [ { "allele": "T", "end": 961, "referenceAllele": "C", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_001744659.2:n.961C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593382" }, { "coordinates": [ { "allele": "T", "end": 957, "endIntronDirection": "-", "endIntronOffset": 363, "referenceAllele": "C", "start": 957, "startIntronDirection": "-", "startIntronOffset": 364 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_001744660.2:n.958-364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593383" }, { "coordinates": [ { "allele": "T", "end": 957, "endIntronDirection": "-", "endIntronOffset": 363, "referenceAllele": "C", "start": 957, "startIntronDirection": "-", "startIntronOffset": 364 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_001744661.2:n.958-364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593384" }, { "coordinates": [ { "allele": "T", "end": 961, "referenceAllele": "C", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_927461.3:n.961C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS608548" }, { "@id": "http://reg.genome.network/allele/PA2825094831", "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_000181.4:c.916C>T" ], "proteinEffect": { "hgvs": "NP_000172.2:p.Gln306Ter", "hgvsWellDefined": "NP_000172.2:p.Gln306_Thr651delinsLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662341", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304895.9:c.916C>T" }, "RefSeq": { "hgvs": "NM_000181.4:c.916C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000302728.4:p.Gln306Ter" }, "RefSeq": { "hgvs": "NP_000172.2:p.Gln306Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826687662", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001284290.2:c.478C>T" ], "proteinEffect": { "hgvs": "NP_001271219.1:p.Gln160Ter", "hgvsWellDefined": "NP_001271219.1:p.Gln160_Thr505delinsLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682044" }, { "@id": "http://reg.genome.network/allele/PA2826822206", "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293104.2:c.346C>T" ], "proteinEffect": { "hgvs": "NP_001280033.1:p.Gln116Ter", "hgvsWellDefined": "NP_001280033.1:p.Gln116_Thr461delinsLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682970" }, { "@id": "http://reg.genome.network/allele/PA2741853206", "coordinates": [ { "allele": "T", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293105.2:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001280034.1:p.Gln87Ter", "hgvsWellDefined": "NP_001280034.1:p.Gln87_Thr432delinsLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682971" }, { "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NR_120531.2:n.946C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703205" } ], "type": "nucleotide" }