{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412395201",
  "communityStandardTitle": [
    "NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=939521[alleleid]",
        "alleleId": 939521,
        "preferredName": "NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/935969",
        "RCV": [
          "RCV001204675"
        ],
        "variationId": 935969
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19375800C>T?assembly=hg19",
        "id": "chrX:g.19375800C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19357682C>T?assembly=hg38",
        "id": "chrX:g.19357682C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2063213272",
        "rs": 2063213272
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 19357682,
          "referenceAllele": "C",
          "start": 19357681
        }
      ],
      "hgvs": [
        "NC_000023.11:g.19357682C>T",
        "CM000685.2:g.19357682C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 19375800,
          "referenceAllele": "C",
          "start": 19375799
        }
      ],
      "hgvs": [
        "NC_000023.10:g.19375800C>T",
        "CM000685.1:g.19375800C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 19285721,
          "referenceAllele": "C",
          "start": 19285720
        }
      ],
      "hgvs": [
        "NC_000023.9:g.19285721C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18790,
          "referenceAllele": "C",
          "start": 18789
        }
      ],
      "hgvs": [
        "NG_016781.1:g.18790C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003296"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "referenceAllele": "C",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000355808.10:c.883C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348062.6:p.Arg295Cys",
        "hgvsWellDefined": "ENSP00000348062.6:p.Arg295Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379805.4:c.*554C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369133.3:n.*554C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000417819.6:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404616.2:p.Arg316Cys",
        "hgvsWellDefined": "ENSP00000404616.2:p.Arg316Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1087,
          "referenceAllele": "C",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000423505.6:c.976C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406473.2:p.Arg326Cys",
        "hgvsWellDefined": "ENSP00000406473.2:p.Arg326Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000481733.2:n.657C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 795,
          "referenceAllele": "C",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696704.1:c.*194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512823.1:n.*194C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 881,
          "referenceAllele": "C",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696705.1:c.*317C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512824.1:n.*317C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.7:c.862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:p.Arg288Cys",
        "hgvsWellDefined": "ENSP00000394382.2:p.Arg288Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.862C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.862C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:p.Arg288Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:p.Arg288Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379804.1:c.19C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369132.1:p.Arg7Cys",
        "hgvsWellDefined": "ENSP00000369132.1:p.Arg7Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1121,
          "referenceAllele": "C",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379806.9:c.976C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369134.5:p.Arg326Cys",
        "hgvsWellDefined": "ENSP00000369134.5:p.Arg326Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.6:c.862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:p.Arg288Cys",
        "hgvsWellDefined": "ENSP00000394382.2:p.Arg288Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000478795.1:n.301C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 290,
          "referenceAllele": "C",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000481733.1:n.290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 914,
          "referenceAllele": "C",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000540249.5:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440761.1:p.Arg257Cys",
        "hgvsWellDefined": "ENSP00000440761.1:p.Arg257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000545074.5:c.883C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438550.1:p.Arg295Cys",
        "hgvsWellDefined": "ENSP00000438550.1:p.Arg295Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825140309",
      "coordinates": [
        {
          "allele": "T",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.3:c.862C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:p.Arg288Cys",
        "hgvsWellDefined": "NP_000275.1:p.Arg288Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139690448",
      "coordinates": [
        {
          "allele": "T",
          "end": 1121,
          "referenceAllele": "C",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.1:c.976C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:p.Arg326Cys",
        "hgvsWellDefined": "NP_001166925.1:p.Arg326Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088485",
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.1:c.883C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:p.Arg295Cys",
        "hgvsWellDefined": "NP_001166926.1:p.Arg295Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826089026",
      "coordinates": [
        {
          "allele": "T",
          "end": 914,
          "referenceAllele": "C",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.1:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:p.Arg257Cys",
        "hgvsWellDefined": "NP_001166927.1:p.Arg257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545531.1:c.997C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543833.1:p.Arg333Cys",
        "hgvsWellDefined": "XP_011543833.1:p.Arg333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "referenceAllele": "C",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545532.1:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543834.1:p.Arg302Cys",
        "hgvsWellDefined": "XP_011543834.1:p.Arg302Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_017029574.2:c.883C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885063.1:p.Arg295Cys",
        "hgvsWellDefined": "XP_016885063.1:p.Arg295Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579092"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825140309",
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.4:c.862C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:p.Arg288Cys",
        "hgvsWellDefined": "NP_000275.1:p.Arg288Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674774",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.862C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.862C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:p.Arg288Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:p.Arg288Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139690448",
      "coordinates": [
        {
          "allele": "T",
          "end": 1087,
          "referenceAllele": "C",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.2:c.976C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:p.Arg326Cys",
        "hgvsWellDefined": "NP_001166925.1:p.Arg326Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088485",
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "referenceAllele": "C",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.2:c.883C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:p.Arg295Cys",
        "hgvsWellDefined": "NP_001166926.1:p.Arg295Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826089026",
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.2:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:p.Arg257Cys",
        "hgvsWellDefined": "NP_001166927.1:p.Arg257Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713473"
    }
  ],
  "type": "nucleotide"
}