{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412391097",
  "communityStandardTitle": [
    "NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=246514",
        "active": true,
        "id": "COSM246514"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1310464[alleleid]",
        "alleleId": 1310464,
        "preferredName": "NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1320219",
        "RCV": [
          "RCV001775392"
        ],
        "variationId": 1320219
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19369462C>T?assembly=hg19",
        "id": "chrX:g.19369462C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19351344C>T?assembly=hg38",
        "id": "chrX:g.19351344C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147176072",
        "rs": 2147176072
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 19351344,
          "referenceAllele": "C",
          "start": 19351343
        }
      ],
      "hgvs": [
        "NC_000023.11:g.19351344C>T",
        "CM000685.2:g.19351344C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 19369462,
          "referenceAllele": "C",
          "start": 19369461
        }
      ],
      "hgvs": [
        "NC_000023.10:g.19369462C>T",
        "CM000685.1:g.19369462C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 19279383,
          "referenceAllele": "C",
          "start": 19279382
        }
      ],
      "hgvs": [
        "NC_000023.9:g.19279383C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12452,
          "referenceAllele": "C",
          "start": 12451
        }
      ],
      "hgvs": [
        "NG_016781.1:g.12452C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003296"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000355808.10:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348062.6:p.Arg126Trp",
        "hgvsWellDefined": "ENSP00000348062.6:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379805.4:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369133.3:p.Arg119Trp",
        "hgvsWellDefined": "ENSP00000369133.3:p.Arg119Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000417819.6:c.439C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404616.2:p.Arg147Trp",
        "hgvsWellDefined": "ENSP00000404616.2:p.Arg147Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "C",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000423505.6:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406473.2:p.Arg157Trp",
        "hgvsWellDefined": "ENSP00000406473.2:p.Arg157Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696704.1:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512823.1:p.Arg119Trp",
        "hgvsWellDefined": "ENSP00000512823.1:p.Arg119Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696705.1:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512824.1:p.Arg119Trp",
        "hgvsWellDefined": "ENSP00000512824.1:p.Arg119Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.7:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:p.Arg119Trp",
        "hgvsWellDefined": "ENSP00000394382.2:p.Arg119Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.355C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.355C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:p.Arg119Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:p.Arg119Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 464,
          "referenceAllele": "C",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000355808.9:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348062.5:p.Arg126Trp",
        "hgvsWellDefined": "ENSP00000348062.5:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "C",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379805.3:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369133.3:p.Arg119Trp",
        "hgvsWellDefined": "ENSP00000369133.3:p.Arg119Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379806.9:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369134.5:p.Arg157Trp",
        "hgvsWellDefined": "ENSP00000369134.5:p.Arg157Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.6:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:p.Arg119Trp",
        "hgvsWellDefined": "ENSP00000394382.2:p.Arg119Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "referenceAllele": "C",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000423505.5:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406473.1:p.Arg157Trp",
        "hgvsWellDefined": "ENSP00000406473.1:p.Arg157Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000492364.1:n.457C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000540249.5:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440761.1:p.Arg119Trp",
        "hgvsWellDefined": "ENSP00000440761.1:p.Arg119Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "referenceAllele": "C",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000545074.5:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438550.1:p.Arg126Trp",
        "hgvsWellDefined": "ENSP00000438550.1:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825140204",
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.3:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:p.Arg119Trp",
        "hgvsWellDefined": "NP_000275.1:p.Arg119Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066955",
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.1:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:p.Arg157Trp",
        "hgvsWellDefined": "NP_001166925.1:p.Arg157Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088194",
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "referenceAllele": "C",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.1:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:p.Arg126Trp",
        "hgvsWellDefined": "NP_001166926.1:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088801",
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.1:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:p.Arg119Trp",
        "hgvsWellDefined": "NP_001166927.1:p.Arg119Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545531.1:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543833.1:p.Arg164Trp",
        "hgvsWellDefined": "XP_011543833.1:p.Arg164Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545532.1:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543834.1:p.Arg164Trp",
        "hgvsWellDefined": "XP_011543834.1:p.Arg164Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_017029574.2:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885063.1:p.Arg157Trp",
        "hgvsWellDefined": "XP_016885063.1:p.Arg157Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579092"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825140204",
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.4:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:p.Arg119Trp",
        "hgvsWellDefined": "NP_000275.1:p.Arg119Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674774",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.355C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.355C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:p.Arg119Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:p.Arg119Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066955",
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "C",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.2:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:p.Arg157Trp",
        "hgvsWellDefined": "NP_001166925.1:p.Arg157Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088194",
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.2:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:p.Arg126Trp",
        "hgvsWellDefined": "NP_001166926.1:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088801",
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.2:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:p.Arg119Trp",
        "hgvsWellDefined": "NP_001166927.1:p.Arg119Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713473"
    }
  ],
  "type": "nucleotide"
}