{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412393248",
  "communityStandardTitle": [
    "NM_000284.4(PDHA1):c.465G>C (p.Met155Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19371246G>C?assembly=hg19",
        "id": "chrX:g.19371246G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19353128G>C?assembly=hg38",
        "id": "chrX:g.19353128G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 19353128,
          "referenceAllele": "G",
          "start": 19353127
        }
      ],
      "hgvs": [
        "NC_000023.11:g.19353128G>C",
        "CM000685.2:g.19353128G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 19371246,
          "referenceAllele": "G",
          "start": 19371245
        }
      ],
      "hgvs": [
        "NC_000023.10:g.19371246G>C",
        "CM000685.1:g.19371246G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 19281167,
          "referenceAllele": "G",
          "start": 19281166
        }
      ],
      "hgvs": [
        "NC_000023.9:g.19281167G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14236,
          "referenceAllele": "G",
          "start": 14235
        }
      ],
      "hgvs": [
        "NG_016781.1:g.14236G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003296"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 597,
          "referenceAllele": "G",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000355808.10:c.486G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348062.6:p.Met162Ile",
        "hgvsWellDefined": "ENSP00000348062.6:p.Met162Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379805.4:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369133.3:p.Met155Ile",
        "hgvsWellDefined": "ENSP00000369133.3:p.Met155Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000417819.6:c.549G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404616.2:p.Met183Ile",
        "hgvsWellDefined": "ENSP00000404616.2:p.Met183Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000423505.6:c.579G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406473.2:p.Met193Ile",
        "hgvsWellDefined": "ENSP00000406473.2:p.Met193Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "endIntronDirection": "+",
          "endIntronOffset": 1721,
          "referenceAllele": "G",
          "start": 536,
          "startIntronDirection": "+",
          "startIntronOffset": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696704.1:c.418+1721G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512823.1:n.418+1721G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 529,
          "endIntronDirection": "-",
          "endIntronOffset": 1362,
          "referenceAllele": "G",
          "start": 529,
          "startIntronDirection": "-",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696705.1:c.419-1363G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512824.1:n.419-1363G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.7:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:p.Met155Ile",
        "hgvsWellDefined": "ENSP00000394382.2:p.Met155Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.465G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.465G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:p.Met155Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:p.Met155Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 574,
          "referenceAllele": "G",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000355808.9:c.486G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348062.5:p.Met162Ile",
        "hgvsWellDefined": "ENSP00000348062.5:p.Met162Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379805.3:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369133.3:p.Met155Ile",
        "hgvsWellDefined": "ENSP00000369133.3:p.Met155Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379806.9:c.579G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369134.5:p.Met193Ile",
        "hgvsWellDefined": "ENSP00000369134.5:p.Met193Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.6:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:p.Met155Ile",
        "hgvsWellDefined": "ENSP00000394382.2:p.Met155Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000423505.5:c.579G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406473.1:p.Met193Ile",
        "hgvsWellDefined": "ENSP00000406473.1:p.Met193Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 300,
          "referenceAllele": "G",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000479146.1:n.300G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000540249.5:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440761.1:p.Met155Ile",
        "hgvsWellDefined": "ENSP00000440761.1:p.Met155Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000545074.5:c.486G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438550.1:p.Met162Ile",
        "hgvsWellDefined": "ENSP00000438550.1:p.Met162Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825140220",
      "coordinates": [
        {
          "allele": "C",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.3:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:p.Met155Ile",
        "hgvsWellDefined": "NP_000275.1:p.Met155Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741843585",
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.1:c.579G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:p.Met193Ile",
        "hgvsWellDefined": "NP_001166925.1:p.Met193Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088248",
      "coordinates": [
        {
          "allele": "C",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.1:c.486G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:p.Met162Ile",
        "hgvsWellDefined": "NP_001166926.1:p.Met162Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088848",
      "coordinates": [
        {
          "allele": "C",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.1:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:p.Met155Ile",
        "hgvsWellDefined": "NP_001166927.1:p.Met155Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015586"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "G",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545531.1:c.600G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543833.1:p.Met200Ile",
        "hgvsWellDefined": "XP_011543833.1:p.Met200Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "G",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545532.1:c.600G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543834.1:p.Met200Ile",
        "hgvsWellDefined": "XP_011543834.1:p.Met200Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 711,
          "referenceAllele": "G",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_017029574.2:c.579G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885063.1:p.Met193Ile",
        "hgvsWellDefined": "XP_016885063.1:p.Met193Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579092"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825140220",
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.4:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:p.Met155Ile",
        "hgvsWellDefined": "NP_000275.1:p.Met155Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674774",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.465G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.465G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:p.Met155Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:p.Met155Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741843585",
      "coordinates": [
        {
          "allele": "C",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.2:c.579G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:p.Met193Ile",
        "hgvsWellDefined": "NP_001166925.1:p.Met193Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088248",
      "coordinates": [
        {
          "allele": "C",
          "end": 597,
          "referenceAllele": "G",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.2:c.486G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:p.Met162Ile",
        "hgvsWellDefined": "NP_001166926.1:p.Met162Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088848",
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.2:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:p.Met155Ile",
        "hgvsWellDefined": "NP_001166927.1:p.Met155Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713473"
    }
  ],
  "type": "nucleotide"
}