{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA323094",
  "communityStandardTitle": [
    "NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=612343",
        "active": true,
        "id": "COSM612343"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1651066",
        "active": true,
        "id": "COSM1651066"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3913734",
        "active": true,
        "id": "COSM3913734"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212019[alleleid]",
        "alleleId": 212019,
        "preferredName": "NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214936",
        "RCV": [
          "RCV000198575",
          "RCV000497402",
          "RCV001788065",
          "RCV001796726"
        ],
        "variationId": 214936
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19377730C>T?assembly=hg19",
        "id": "chrX:g.19377730C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19359612C>T?assembly=hg38",
        "id": "chrX:g.19359612C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863224147",
        "rs": 863224147
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 19359612,
          "referenceAllele": "C",
          "start": 19359611
        }
      ],
      "hgvs": [
        "NC_000023.11:g.19359612C>T",
        "CM000685.2:g.19359612C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 19377730,
          "referenceAllele": "C",
          "start": 19377729
        }
      ],
      "hgvs": [
        "NC_000023.10:g.19377730C>T",
        "CM000685.1:g.19377730C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 19287651,
          "referenceAllele": "C",
          "start": 19287650
        }
      ],
      "hgvs": [
        "NC_000023.9:g.19287651C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20720,
          "referenceAllele": "C",
          "start": 20719
        }
      ],
      "hgvs": [
        "NG_016781.1:g.20720C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 160650,
          "referenceAllele": "G",
          "start": 160649
        }
      ],
      "hgvs": [
        "NG_021184.1:g.160650G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003463"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1264,
          "referenceAllele": "C",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000355808.10:c.1153C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348062.6:p.Arg385Cys",
        "hgvsWellDefined": "ENSP00000348062.6:p.Arg385Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1478,
          "referenceAllele": "C",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379805.4:c.*824C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369133.3:n.*824C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "C",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000417819.6:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404616.2:p.Arg406Cys",
        "hgvsWellDefined": "ENSP00000404616.2:p.Arg406Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1357,
          "referenceAllele": "C",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000423505.6:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406473.2:p.Arg416Cys",
        "hgvsWellDefined": "ENSP00000406473.2:p.Arg416Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000481733.2:n.927C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696704.1:c.*464C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512823.1:n.*464C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1151,
          "referenceAllele": "C",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696705.1:c.*587C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512824.1:n.*587C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.7:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:p.Arg378Cys",
        "hgvsWellDefined": "ENSP00000394382.2:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.1132C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.1132C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:p.Arg378Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:p.Arg378Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379804.1:c.289C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369132.1:p.Arg97Cys",
        "hgvsWellDefined": "ENSP00000369132.1:p.Arg97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379806.9:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369134.5:p.Arg416Cys",
        "hgvsWellDefined": "ENSP00000369134.5:p.Arg416Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.6:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:p.Arg378Cys",
        "hgvsWellDefined": "ENSP00000394382.2:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000478795.1:n.571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1184,
          "referenceAllele": "C",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000540249.5:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440761.1:p.Arg347Cys",
        "hgvsWellDefined": "ENSP00000440761.1:p.Arg347Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000545074.5:c.1153C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438550.1:p.Arg385Cys",
        "hgvsWellDefined": "ENSP00000438550.1:p.Arg385Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA323095",
      "coordinates": [
        {
          "allele": "T",
          "end": 1277,
          "referenceAllele": "C",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.3:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:p.Arg378Cys",
        "hgvsWellDefined": "NP_000275.1:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915993106",
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.1:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:p.Arg416Cys",
        "hgvsWellDefined": "NP_001166925.1:p.Arg416Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088609",
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.1:c.1153C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:p.Arg385Cys",
        "hgvsWellDefined": "NP_001166926.1:p.Arg385Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826089181",
      "coordinates": [
        {
          "allele": "T",
          "end": 1184,
          "referenceAllele": "C",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:p.Arg347Cys",
        "hgvsWellDefined": "NP_001166927.1:p.Arg347Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1399,
          "referenceAllele": "C",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545531.1:c.1267C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543833.1:p.Arg423Cys",
        "hgvsWellDefined": "XP_011543833.1:p.Arg423Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545532.1:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543834.1:p.Arg392Cys",
        "hgvsWellDefined": "XP_011543834.1:p.Arg392Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "referenceAllele": "C",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_017029574.2:c.1153C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885063.1:p.Arg385Cys",
        "hgvsWellDefined": "XP_016885063.1:p.Arg385Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579092"
    },
    {
      "@id": "http://reg.genome.network/allele/PA323095",
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.4:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:p.Arg378Cys",
        "hgvsWellDefined": "NP_000275.1:p.Arg378Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674774",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.1132C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.1132C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:p.Arg378Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:p.Arg378Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915993106",
      "coordinates": [
        {
          "allele": "T",
          "end": 1357,
          "referenceAllele": "C",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.2:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:p.Arg416Cys",
        "hgvsWellDefined": "NP_001166925.1:p.Arg416Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088609",
      "coordinates": [
        {
          "allele": "T",
          "end": 1264,
          "referenceAllele": "C",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.2:c.1153C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:p.Arg385Cys",
        "hgvsWellDefined": "NP_001166926.1:p.Arg385Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826089181",
      "coordinates": [
        {
          "allele": "T",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.2:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:p.Arg347Cys",
        "hgvsWellDefined": "NP_001166927.1:p.Arg347Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713473"
    }
  ],
  "type": "nucleotide"
}