{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA241583", "communityStandardTitle": [ "NM_005476.7(GNE):c.-15C>T" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192405[alleleid]", "alleleId": 192405, "preferredName": "NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195244", "RCV": [ "RCV000383627", "RCV000598080", "RCV001060421", "RCV001167866" ], "variationId": 195244 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.36249367G>A?assembly=hg19", "id": "chr9:g.36249367G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.36249370G>A?assembly=hg38", "id": "chr9:g.36249370G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794727279", "rs": 794727279 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-36249367-G-A?dataset=gnomad_r2_1", "id": "9-36249367-G-A", "variant": "9:36249367 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-36249370-G-A?dataset=gnomad_r4", "id": "9-36249370-G-A", "variant": "9:36249370 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 36249370, "referenceAllele": "G", "start": 36249369 } ], "hgvs": [ "NC_000009.12:g.36249370G>A", "CM000671.2:g.36249370G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 36249367, "referenceAllele": "G", "start": 36249366 } ], "hgvs": [ "NC_000009.11:g.36249367G>A", "CM000671.1:g.36249367G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 36239367, "referenceAllele": "G", "start": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS011763" }, { "coordinates": [ { "allele": "T", "end": 207, "referenceAllele": "C", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190383.1:c.-15C>T" ], "proteinEffect": { "hgvs": "NP_001177312.1:n.-15C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS016168" }, { "coordinates": [ { "allele": "T", "end": 179, "endIntronDirection": "-", "endIntronOffset": 2887, "referenceAllele": "C", "start": 179, "startIntronDirection": "-", "startIntronOffset": 2888 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190384.1:c.-13-2888C>T" ], "proteinEffect": { "hgvs": "NP_001177313.1:n.-13-2888C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS016169" }, { "coordinates": [ { "allele": "T", "end": 163, "endIntronDirection": "-", "endIntronOffset": 2887, "referenceAllele": "C", "start": 163, "startIntronDirection": "-", "startIntronOffset": 2888 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190388.1:c.150-2888C>T" ], "proteinEffect": { "hgvs": "NP_001177317.1:n.150-2888C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS016170" }, { "coordinates": [ { "allele": "T", "end": 207, "referenceAllele": "C", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_005476.5:c.-15C>T" ], "proteinEffect": { "hgvs": "NP_005467.1:n.-15C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS030569" }, { "coordinates": [ { "allele": "T", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "XM_005251334.3:c.79C>T" ], "proteinEffect": { "hgvs": "XP_005251391.1:p.Arg27Ter", 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