{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5556810", "communityStandardTitle": [ "NM_001391956.1(USP54):c.172C>T (p.Arg58Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5881948", "active": true, "id": "COSM5881948" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5881949", "active": true, "id": "COSM5881949" } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-75331247-G-A", "id": "10-75331247-G-A", "variant": "10:75331247 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.75331247G>A?assembly=hg19", "id": "chr10:g.75331247G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73571489G>A?assembly=hg38", "id": "chr10:g.73571489G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/766013576", "rs": 766013576 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-75331247-G-A?dataset=gnomad_r2_1", "id": "10-75331247-G-A", "variant": "10:75331247 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-73571489-G-A?dataset=gnomad_r4", "id": "10-73571489-G-A", "variant": "10:73571489 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73571489, "referenceAllele": "G", "start": 73571488 } ], "hgvs": [ "NC_000010.11:g.73571489G>A", "CM000672.2:g.73571489G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 75331247, "referenceAllele": "G", "start": 75331246 } ], "hgvs": [ "NC_000010.10:g.75331247G>A", "CM000672.1:g.75331247G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 75001253, "referenceAllele": "G", "start": 75001252 } ], "hgvs": [ "NC_000010.9:g.75001253G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN023513", "geneNCBI_id": 159195, "geneSymbol": "USP54", "hgvs": [ "ENST00000685297.1:c.172C>T" ], "proteinEffect": { "hgvs": "ENSP00000508456.1:p.Arg58Ter", "hgvsWellDefined": "ENSP00000508456.1:p.Arg59_Ser113delinsSerPheArgGlnLeuThrThrHisLysCysMetGlyAspSerCysIlePheCysAlaLeuLysSerLeuThrLeuSerSerArgLeuGluTyrSerGlyValIleSerAlaTyrCysSerLeuHisLeuProGlySerSerAsnSerProAlaSerAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829994" }, { "coordinates": [ { "allele": "T", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN023513", "geneNCBI_id": 159195, "geneSymbol": "USP54", "hgvs": [ "ENST00000687418.1:c.172C>T" ], 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