{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121218",
  "communityStandardTitle": [
    "NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25922[alleleid]",
        "alleleId": 25922,
        "preferredName": "NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10883",
        "RCV": [
          "RCV000011630"
        ],
        "variationId": 10883
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19373590T>A?assembly=hg19",
        "id": "chrX:g.19373590T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.19355472T>A?assembly=hg38",
        "id": "chrX:g.19355472T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853255",
        "rs": 137853255
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 19355472,
          "referenceAllele": "T",
          "start": 19355471
        }
      ],
      "hgvs": [
        "NC_000023.11:g.19355472T>A",
        "CM000685.2:g.19355472T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 19373590,
          "referenceAllele": "T",
          "start": 19373589
        }
      ],
      "hgvs": [
        "NC_000023.10:g.19373590T>A",
        "CM000685.1:g.19373590T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 19283511,
          "referenceAllele": "T",
          "start": 19283510
        }
      ],
      "hgvs": [
        "NC_000023.9:g.19283511T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16580,
          "referenceAllele": "T",
          "start": 16579
        }
      ],
      "hgvs": [
        "NG_016781.1:g.16580T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003296"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "referenceAllele": "T",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000355808.10:c.748T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348062.6:p.Tyr250Asn",
        "hgvsWellDefined": "ENSP00000348062.6:p.Tyr250Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "T",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379805.4:c.*419T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369133.3:n.*419T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 886,
          "referenceAllele": "T",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000417819.6:c.811T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404616.2:p.Tyr271Asn",
        "hgvsWellDefined": "ENSP00000404616.2:p.Tyr271Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 952,
          "referenceAllele": "T",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000423505.6:c.841T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406473.2:p.Tyr281Asn",
        "hgvsWellDefined": "ENSP00000406473.2:p.Tyr281Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "referenceAllele": "T",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000481733.2:n.522T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "referenceAllele": "T",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696704.1:c.*59T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512823.1:n.*59T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "T",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000696705.1:c.*182T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512824.1:n.*182T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "referenceAllele": "T",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.7:c.727T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:p.Tyr243Asn",
        "hgvsWellDefined": "ENSP00000394382.2:p.Tyr243Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.727T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.727T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:p.Tyr243Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:p.Tyr243Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "T",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000379806.9:c.841T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369134.5:p.Tyr281Asn",
        "hgvsWellDefined": "ENSP00000369134.5:p.Tyr281Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "T",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000422285.6:c.727T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394382.2:p.Tyr243Asn",
        "hgvsWellDefined": "ENSP00000394382.2:p.Tyr243Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 155,
          "referenceAllele": "T",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000481733.1:n.155T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000540249.5:c.634T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440761.1:p.Tyr212Asn",
        "hgvsWellDefined": "ENSP00000440761.1:p.Tyr212Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "ENST00000545074.5:c.748T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438550.1:p.Tyr250Asn",
        "hgvsWellDefined": "ENSP00000438550.1:p.Tyr250Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107626",
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "T",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.3:c.727T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:p.Tyr243Asn",
        "hgvsWellDefined": "NP_000275.1:p.Tyr243Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992996",
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "T",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.1:c.841T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:p.Tyr281Asn",
        "hgvsWellDefined": "NP_001166925.1:p.Tyr281Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088412",
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.1:c.748T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:p.Tyr250Asn",
        "hgvsWellDefined": "NP_001166926.1:p.Tyr250Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088925",
      "coordinates": [
        {
          "allele": "A",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.1:c.634T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:p.Tyr212Asn",
        "hgvsWellDefined": "NP_001166927.1:p.Tyr212Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 994,
          "referenceAllele": "T",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545531.1:c.862T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543833.1:p.Tyr288Asn",
        "hgvsWellDefined": "XP_011543833.1:p.Tyr288Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "referenceAllele": "T",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_011545532.1:c.769T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543834.1:p.Tyr257Asn",
        "hgvsWellDefined": "XP_011543834.1:p.Tyr257Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "T",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "XM_017029574.2:c.748T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885063.1:p.Tyr250Asn",
        "hgvsWellDefined": "XP_016885063.1:p.Tyr250Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579092"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107626",
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "referenceAllele": "T",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.4:c.727T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:p.Tyr243Asn",
        "hgvsWellDefined": "NP_000275.1:p.Tyr243Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674774",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.727T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.727T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:p.Tyr243Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:p.Tyr243Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992996",
      "coordinates": [
        {
          "allele": "A",
          "end": 952,
          "referenceAllele": "T",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.2:c.841T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:p.Tyr281Asn",
        "hgvsWellDefined": "NP_001166925.1:p.Tyr281Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088412",
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "referenceAllele": "T",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.2:c.748T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:p.Tyr250Asn",
        "hgvsWellDefined": "NP_001166926.1:p.Tyr250Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088925",
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "T",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.2:c.634T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:p.Tyr212Asn",
        "hgvsWellDefined": "NP_001166927.1:p.Tyr212Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713473"
    }
  ],
  "type": "nucleotide"
}