{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA327030387",
  "communityStandardTitle": [
    "NM_000284.4(PDHA1):c.900-72T>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19376962T>A?assembly=hg19",
        "id": "chrX:g.19376962T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19358844T>A?assembly=hg38",
        "id": "chrX:g.19358844T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/577873294",
        "rs": 577873294
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-19358844-T-A?dataset=gnomad_r4",
        "id": "X-19358844-T-A",
        "variant": "X:19358844 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 19358844,
          "referenceAllele": "T",
          "start": 19358843
        }
      ],
      "hgvs": [
        "NC_000023.11:g.19358844T>A",
        "CM000685.2:g.19358844T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 19376962,
          "referenceAllele": "T",
          "start": 19376961
        }
      ],
      "hgvs": [
        "NC_000023.10:g.19376962T>A",
        "CM000685.1:g.19376962T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 19286883,
          "referenceAllele": "T",
          "start": 19286882
        }
      ],
      "hgvs": [
        "NC_000023.9:g.19286883T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19952,
          "referenceAllele": "T",
          "start": 19951
        }
      ],
      "hgvs": [
        "NG_016781.1:g.19952T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 161418,
          "referenceAllele": "A",
          "start": 161417
        }
      ],
      "hgvs": [
        "NG_021184.1:g.161418A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003463"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1031,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000355808.10:c.921-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348062.6:n.921-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1245,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1245,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379805.4:c.*592-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369133.3:n.*592-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1058,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000417819.6:c.984-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404616.2:n.984-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1124,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000423505.6:c.1014-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406473.2:n.1014-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000481733.2:n.695-72T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 832,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696704.1:c.*232-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512823.1:n.*232-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 918,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 918,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696705.1:c.*355-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512824.1:n.*355-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1010,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.7:c.900-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:n.900-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.900-72T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.900-72T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:n.900-72T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:n.900-72T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 244,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 244,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379804.1:c.57-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369132.1:n.57-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1158,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1158,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379806.9:c.1014-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369134.5:n.1014-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1004,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1004,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.6:c.900-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:n.900-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 338,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 338,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000478795.1:n.339-72T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000481733.1:n.328-72T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 951,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 951,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000540249.5:c.807-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440761.1:n.807-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1065,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000545074.5:c.921-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438550.1:n.921-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1044,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.3:c.900-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:n.900-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1158,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1158,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.1:c.1014-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:n.1014-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1065,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.1:c.921-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:n.921-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 951,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 951,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.1:c.807-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:n.807-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1166,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545531.1:c.1035-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543833.1:n.1035-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1073,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545532.1:c.942-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543834.1:n.942-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1052,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_017029574.2:c.921-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885063.1:n.921-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1010,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.4:c.900-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:n.900-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674774",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.900-72T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.900-72T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:n.900-72T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:n.900-72T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1124,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.2:c.1014-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:n.1014-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 1031,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.2:c.921-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:n.921-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "endIntronDirection": "-",
          "endIntronOffset": 71,
          "referenceAllele": "T",
          "start": 917,
          "startIntronDirection": "-",
          "startIntronOffset": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.2:c.807-72T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:n.807-72T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713473"
    }
  ],
  "type": "nucleotide"
}