{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115354",
  "communityStandardTitle": [
    "NM_003477.3(PDHX):c.1024-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17154[alleleid]",
        "alleleId": 17154,
        "preferredName": "NM_003477.3(PDHX):c.1024-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2115",
        "RCV": [
          "RCV000002196"
        ],
        "variationId": 2115
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.35006116G>A?assembly=hg19",
        "id": "chr11:g.35006116G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.34984569G>A?assembly=hg38",
        "id": "chr11:g.34984569G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/724159830",
        "rs": 724159830
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-34984569-G-A?dataset=gnomad_r4",
        "id": "11-34984569-G-A",
        "variant": "11:34984569 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 34984569,
          "referenceAllele": "G",
          "start": 34984568
        }
      ],
      "hgvs": [
        "NC_000011.10:g.34984569G>A",
        "CM000673.2:g.34984569G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 35006116,
          "referenceAllele": "G",
          "start": 35006115
        }
      ],
      "hgvs": [
        "NC_000011.9:g.35006116G>A",
        "CM000673.1:g.35006116G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 34962692,
          "referenceAllele": "G",
          "start": 34962691
        }
      ],
      "hgvs": [
        "NC_000011.8:g.34962692G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73440,
          "referenceAllele": "G",
          "start": 73439
        }
      ],
      "hgvs": [
        "NG_013368.1:g.73440G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1220,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000448838.8:c.844-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389404.3:n.844-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1061,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1061,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000227868.9:c.1024-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227868.4:n.1024-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740735",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227868.9:c.1024-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003477.3:c.1024-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227868.4:n.1024-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003468.2:n.1024-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1107,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1107,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000227868.8:c.1024-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227868.4:n.1024-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 366,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000430469.6:c.343-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415695.2:n.343-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1220,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000448838.7:c.979-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389404.2:n.979-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000526309.1:c.87-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 248,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000532159.1:n.249-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1220,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_001135024.1:c.979-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128496.1:n.979-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 868,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 868,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_001166158.1:c.343-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159630.1:n.343-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1549,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1549,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_003477.2:c.1024-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003468.2:n.1024-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 973,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 973,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "XM_011520390.1:c.844-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518692.1:n.844-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1061,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1061,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_003477.3:c.1024-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003468.2:n.1024-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227868.9:c.1024-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003477.3:c.1024-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227868.4:n.1024-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003468.2:n.1024-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 912,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 912,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_001135024.2:c.844-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128496.2:n.844-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 380,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 380,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_001166158.2:c.343-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159630.1:n.343-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713173"
    }
  ],
  "type": "nucleotide"
}