{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412394725", "communityStandardTitle": [ "NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2473211[alleleid]", "alleleId": 2473211, "preferredName": "NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2498132", "RCV": [ "RCV003219193" ], "variationId": 2498132 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.19373810G>A?assembly=hg19", "id": "chrX:g.19373810G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.19355692G>A?assembly=hg38", "id": "chrX:g.19355692G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2518500437", "rs": 2518500437 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 19355692, "referenceAllele": "G", "start": 19355691 } ], "hgvs": [ "NC_000023.11:g.19355692G>A", "CM000685.2:g.19355692G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 19373810, "referenceAllele": "G", "start": 19373809 } ], "hgvs": [ "NC_000023.10:g.19373810G>A", "CM000685.1:g.19373810G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 19283731, "referenceAllele": "G", "start": 19283730 } ], "hgvs": [ "NC_000023.9:g.19283731G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 16800, "referenceAllele": "G", "start": 16799 } ], "hgvs": [ "NG_016781.1:g.16800G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003296" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 898, "referenceAllele": "G", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000355808.10:c.787G>A" ], "proteinEffect": { "hgvs": "ENSP00000348062.6:p.Gly263Arg", "hgvsWellDefined": "ENSP00000348062.6:p.Gly263Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS904450" }, { "coordinates": [ { "allele": "A", "end": 1112, "referenceAllele": "G", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000379805.4:c.*458G>A" ], "proteinEffect": { "hgvs": "ENSP00000369133.3:n.*458G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS904563" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "G", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000417819.6:c.850G>A" ], "proteinEffect": { "hgvs": "ENSP00000404616.2:p.Gly284Arg", "hgvsWellDefined": "ENSP00000404616.2:p.Gly284Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS904735" }, { "coordinates": [ { "allele": "A", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000423505.6:c.880G>A" ], "proteinEffect": { "hgvs": "ENSP00000406473.2:p.Gly294Arg", "hgvsWellDefined": "ENSP00000406473.2:p.Gly294Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS904787" }, { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "G", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000481733.2:n.561G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905286" }, { "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000696704.1:c.*98G>A" ], "proteinEffect": { "hgvs": "ENSP00000512823.1:n.*98G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908149" }, { "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "G", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000696705.1:c.*221G>A" ], "proteinEffect": { "hgvs": "ENSP00000512824.1:n.*221G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908150" }, { "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "G", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000422285.7:c.766G>A" ], "proteinEffect": { "hgvs": "ENSP00000394382.2:p.Gly256Arg", "hgvsWellDefined": "ENSP00000394382.2:p.Gly256Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS754919", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000422285.7:c.766G>A" }, "RefSeq": { "hgvs": "NM_000284.4:c.766G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394382.2:p.Gly256Arg" }, "RefSeq": { "hgvs": "NP_000275.1:p.Gly256Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 111, "referenceAllele": "G", "start": 110 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000379804.1:c.-78G>A" ], "proteinEffect": { "hgvs": "ENSP00000369132.1:n.-78G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS272648" }, { "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "G", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000379806.9:c.880G>A" ], "proteinEffect": { "hgvs": "ENSP00000369134.5:p.Gly294Arg", "hgvsWellDefined": "ENSP00000369134.5:p.Gly294Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272650" }, { "coordinates": [ { "allele": "A", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000422285.6:c.766G>A" ], "proteinEffect": { "hgvs": "ENSP00000394382.2:p.Gly256Arg", "hgvsWellDefined": "ENSP00000394382.2:p.Gly256Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS287199" }, { "coordinates": [ { "allele": "A", "end": 194, "referenceAllele": "G", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000481733.1:n.194G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321585" }, { "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000540249.5:c.673G>A" ], "proteinEffect": { "hgvs": "ENSP00000440761.1:p.Gly225Arg", "hgvsWellDefined": "ENSP00000440761.1:p.Gly225Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS362301" }, { "coordinates": [ { "allele": "A", "end": 932, "referenceAllele": "G", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000545074.5:c.787G>A" ], "proteinEffect": { "hgvs": "ENSP00000438550.1:p.Gly263Arg", "hgvsWellDefined": "ENSP00000438550.1:p.Gly263Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS364913" }, { "@id": "http://reg.genome.network/allele/PA2825140287", "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "G", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_000284.3:c.766G>A" ], "proteinEffect": { "hgvs": "NP_000275.1:p.Gly256Arg", "hgvsWellDefined": "NP_000275.1:p.Gly256Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006345" }, { "@id": "http://reg.genome.network/allele/PA2580157960", "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "G", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173454.1:c.880G>A" ], "proteinEffect": { "hgvs": "NP_001166925.1:p.Gly294Arg", "hgvsWellDefined": "NP_001166925.1:p.Gly294Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS015584" }, { "@id": "http://reg.genome.network/allele/PA2826088448", "coordinates": [ { "allele": "A", "end": 932, "referenceAllele": "G", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173455.1:c.787G>A" ], "proteinEffect": { "hgvs": "NP_001166926.1:p.Gly263Arg", "hgvsWellDefined": "NP_001166926.1:p.Gly263Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS015585" }, { "@id": "http://reg.genome.network/allele/PA2826088956", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173456.1:c.673G>A" ], "proteinEffect": { "hgvs": "NP_001166927.1:p.Gly225Arg", "hgvsWellDefined": "NP_001166927.1:p.Gly225Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS015586" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "XM_011545531.1:c.901G>A" ], "proteinEffect": { "hgvs": "XP_011543833.1:p.Gly301Arg", "hgvsWellDefined": "XP_011543833.1:p.Gly301Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS112431" }, { "coordinates": [ { "allele": "A", "end": 940, "referenceAllele": "G", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "XM_011545532.1:c.808G>A" ], "proteinEffect": { "hgvs": "XP_011543834.1:p.Gly270Arg", "hgvsWellDefined": "XP_011543834.1:p.Gly270Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS112432" }, { "coordinates": [ { "allele": "A", "end": 919, "referenceAllele": "G", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "XM_017029574.2:c.787G>A" ], "proteinEffect": { "hgvs": "XP_016885063.1:p.Gly263Arg", "hgvsWellDefined": "XP_016885063.1:p.Gly263Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS579092" }, { "@id": "http://reg.genome.network/allele/PA2825140287", "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "G", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_000284.4:c.766G>A" ], "proteinEffect": { "hgvs": "NP_000275.1:p.Gly256Arg", "hgvsWellDefined": "NP_000275.1:p.Gly256Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674774", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000422285.7:c.766G>A" }, "RefSeq": { "hgvs": "NM_000284.4:c.766G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394382.2:p.Gly256Arg" }, "RefSeq": { "hgvs": "NP_000275.1:p.Gly256Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2580157960", "coordinates": [ { "allele": "A", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173454.2:c.880G>A" ], "proteinEffect": { "hgvs": "NP_001166925.1:p.Gly294Arg", "hgvsWellDefined": "NP_001166925.1:p.Gly294Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713471" }, { "@id": "http://reg.genome.network/allele/PA2826088448", "coordinates": [ { "allele": "A", "end": 898, "referenceAllele": "G", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173455.2:c.787G>A" ], "proteinEffect": { "hgvs": "NP_001166926.1:p.Gly263Arg", "hgvsWellDefined": "NP_001166926.1:p.Gly263Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713472" }, { "@id": "http://reg.genome.network/allele/PA2826088956", "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173456.2:c.673G>A" ], "proteinEffect": { "hgvs": "NP_001166927.1:p.Gly225Arg", "hgvsWellDefined": "NP_001166927.1:p.Gly225Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713473" } ], "type": "nucleotide" }