{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253676", "communityStandardTitle": [ "NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3883578", "active": true, "id": "COSM3883578" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21046[alleleid]", "alleleId": 21046, "preferredName": "NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6007", "RCV": [ "RCV000006376", "RCV000728351", "RCV001267011", "RCV001831517", "RCV002508184", "RCV003581555" ], "variationId": 6007 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-95751045-C-T", "id": "7-95751045-C-T", "variant": "7:95751045 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.95751045C>T?assembly=hg19", "id": "chr7:g.95751045C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.96121733C>T?assembly=hg38", "id": "chr7:g.96121733C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908532", "rs": 121908532 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-95751045-C-T?dataset=gnomad_r2_1", "id": "7-95751045-C-T", "variant": "7:95751045 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-96121733-C-T?dataset=gnomad_r4", "id": "7-96121733-C-T", "variant": "7:96121733 C / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 96121733, "referenceAllele": "C", "start": 96121732 } ], "hgvs": [ "NC_000007.14:g.96121733C>T", "CM000669.2:g.96121733C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 95751045, "referenceAllele": "C", "start": 95751044 } ], "hgvs": [ "NC_000007.13:g.95751045C>T", "CM000669.1:g.95751045C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 95588981, "referenceAllele": "C", "start": 95588980 } ], "hgvs": [ "NC_000007.12:g.95588981C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 205415, "referenceAllele": "G", "start": 205414 } ], "hgvs": [ "NG_012247.1:g.205415G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002315" }, { "coordinates": [ { "allele": "A", "end": 205415, "referenceAllele": "G", "start": 205414 } ], "hgvs": [ "NG_012247.2:g.205415G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673591" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1905, "referenceAllele": "G", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "ENST00000265631.10:c.1763G>A" ], "proteinEffect": { "hgvs": "ENSP00000265631.6:p.Arg588Gln", "hgvsWellDefined": "ENSP00000265631.6:p.Arg588Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS742861", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265631.10:c.1763G>A" }, "RefSeq": { "hgvs": "NM_014251.3:c.1763G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265631.6:p.Arg588Gln" }, "RefSeq": { "hgvs": "NP_055066.1:p.Arg588Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 1900, "referenceAllele": "G", "start": 1899 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "ENST00000265631.9:c.1763G>A" ], "proteinEffect": { "hgvs": "ENSP00000265631.5:p.Arg588Gln", "hgvsWellDefined": "ENSP00000265631.5:p.Arg588Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS251786" }, { "coordinates": [ { "allele": "A", "end": 1957, "referenceAllele": "G", "start": 1956 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "ENST00000416240.6:c.1766G>A" ], "proteinEffect": { "hgvs": "ENSP00000400101.2:p.Arg589Gln", "hgvsWellDefined": "ENSP00000400101.2:p.Arg589Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS284376" }, { "coordinates": [ { "allele": "A", "end": 266, "referenceAllele": "G", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "ENST00000494085.1:n.266G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS331103" }, { "@id": "http://reg.genome.network/allele/PA915986115", "coordinates": [ { "allele": "A", "end": 1957, "referenceAllele": "G", "start": 1956 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "NM_001160210.1:c.1766G>A" ], "proteinEffect": { "hgvs": "NP_001153682.1:p.Arg589Gln", "hgvsWellDefined": "NP_001153682.1:p.Arg589Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014152" }, { "@id": "http://reg.genome.network/allele/PA253677", "coordinates": [ { "allele": "A", "end": 1954, "referenceAllele": "G", "start": 1953 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "NM_014251.2:c.1763G>A" ], "proteinEffect": { "hgvs": "NP_055066.1:p.Arg588Gln", "hgvsWellDefined": "NP_055066.1:p.Arg588Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS033018" }, { "coordinates": [ { "allele": "A", "end": 1838, "referenceAllele": "G", "start": 1837 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "NR_027662.1:n.1838G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS047816" }, { "coordinates": [ { "allele": "A", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "XM_006715831.2:c.1796G>A" ], "proteinEffect": { "hgvs": "XP_006715894.1:p.Arg599Gln", "hgvsWellDefined": "XP_006715894.1:p.Arg599Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS071376" }, { "coordinates": [ { "allele": "A", "end": 1005, "referenceAllele": "G", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "XM_011515728.1:c.911G>A" ], "proteinEffect": { "hgvs": "XP_011514030.1:p.Arg304Gln", "hgvsWellDefined": "XP_011514030.1:p.Arg304Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS082943" }, { "coordinates": [ { "allele": "A", "end": 1891, "referenceAllele": "G", "start": 1890 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "XM_006715831.4:c.1796G>A" ], "proteinEffect": { "hgvs": "XP_006715894.1:p.Arg599Gln", "hgvsWellDefined": "XP_006715894.1:p.Arg599Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS539039" }, { "coordinates": [ { "allele": "A", "end": 1805, "referenceAllele": "G", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "XM_017011663.1:c.1754G>A" ], "proteinEffect": { "hgvs": "XP_016867152.1:p.Arg585Gln", "hgvsWellDefined": "XP_016867152.1:p.Arg585Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS565462" }, { "coordinates": [ { "allele": "A", "end": 1825, "referenceAllele": "G", "start": 1824 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "XM_017011664.2:c.911G>A" ], "proteinEffect": { "hgvs": "XP_016867153.1:p.Arg304Gln", "hgvsWellDefined": "XP_016867153.1:p.Arg304Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS565463" }, { "coordinates": [ { "allele": "A", "end": 1717, "referenceAllele": "G", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "XM_017011665.1:c.911G>A" ], "proteinEffect": { "hgvs": "XP_016867154.1:p.Arg304Gln", "hgvsWellDefined": "XP_016867154.1:p.Arg304Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS565464" }, { "coordinates": [ { "allele": "A", "end": 2009, "referenceAllele": "G", "start": 2008 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "XR_001744525.2:n.2009G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593335" }, { "coordinates": [ { "allele": "A", "end": 2567, "referenceAllele": "G", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "XR_002956405.1:n.2567G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602566" }, { "@id": "http://reg.genome.network/allele/PA253677", "coordinates": [ { "allele": "A", "end": 1905, "referenceAllele": "G", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "NM_014251.3:c.1763G>A" ], "proteinEffect": { "hgvs": "NP_055066.1:p.Arg588Gln", "hgvsWellDefined": "NP_055066.1:p.Arg588Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS697212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265631.10:c.1763G>A" }, "RefSeq": { "hgvs": "NM_014251.3:c.1763G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265631.6:p.Arg588Gln" }, "RefSeq": { "hgvs": "NP_055066.1:p.Arg588Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "G", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "NR_027662.2:n.1789G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701967" }, { "@id": "http://reg.genome.network/allele/PA915986115", "coordinates": [ { "allele": "A", "end": 1908, "referenceAllele": "G", "start": 1907 } ], "gene": "http://reg.genome.network/gene/GN010983", "geneNCBI_id": 10165, "geneSymbol": "SLC25A13", "hgvs": [ "NM_001160210.2:c.1766G>A" ], "proteinEffect": { "hgvs": "NP_001153682.1:p.Arg589Gln", "hgvsWellDefined": "NP_001153682.1:p.Arg589Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS712968" } ], "type": "nucleotide" }