{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA320447",
  "communityStandardTitle": [
    "NM_003477.3(PDHX):c.1231C>T (p.Gln411Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211532[alleleid]",
        "alleleId": 211532,
        "preferredName": "NM_003477.3(PDHX):c.1231C>T (p.Gln411Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2158386",
        "RCV": [
          "RCV003069742",
          "RCV004526962"
        ],
        "variationId": 2158386
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-35013910-C-T",
        "id": "11-35013910-C-T",
        "variant": "11:35013910 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.35013910C>T?assembly=hg19",
        "id": "chr11:g.35013910C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.34992363C>T?assembly=hg38",
        "id": "chr11:g.34992363C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758020436",
        "rs": 758020436
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-35013910-C-T?dataset=gnomad_r2_1",
        "id": "11-35013910-C-T",
        "variant": "11:35013910 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-34992363-C-T?dataset=gnomad_r3",
        "id": "11-34992363-C-T",
        "variant": "11:34992363 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-34992363-C-T?dataset=gnomad_r4",
        "id": "11-34992363-C-T",
        "variant": "11:34992363 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 34992363,
          "referenceAllele": "C",
          "start": 34992362
        }
      ],
      "hgvs": [
        "NC_000011.10:g.34992363C>T",
        "CM000673.2:g.34992363C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 35013910,
          "referenceAllele": "C",
          "start": 35013909
        }
      ],
      "hgvs": [
        "NC_000011.9:g.35013910C>T",
        "CM000673.1:g.35013910C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 34970486,
          "referenceAllele": "C",
          "start": 34970485
        }
      ],
      "hgvs": [
        "NC_000011.8:g.34970486C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81234,
          "referenceAllele": "C",
          "start": 81233
        }
      ],
      "hgvs": [
        "NG_013368.1:g.81234C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1428,
          "referenceAllele": "C",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000448838.8:c.1051C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389404.3:p.Gln351Ter",
        "hgvsWellDefined": "ENSP00000389404.3:p.Gln351_Ala441delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000227868.9:c.1231C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227868.4:p.Gln411Ter",
        "hgvsWellDefined": "ENSP00000227868.4:p.Gln411_Ala501delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740735",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227868.9:c.1231C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003477.3:c.1231C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227868.4:p.Gln411Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003468.2:p.Gln411Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000227868.8:c.1231C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227868.4:p.Gln411Ter",
        "hgvsWellDefined": "ENSP00000227868.4:p.Gln411_Ala501delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000430469.6:c.550C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415695.2:p.Gln184Ter",
        "hgvsWellDefined": "ENSP00000415695.2:p.Gln184_Ala274delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1428,
          "referenceAllele": "C",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000448838.7:c.1186C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389404.2:p.Gln396Ter",
        "hgvsWellDefined": "ENSP00000389404.2:p.Gln396_Ala486delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "referenceAllele": "C",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000477173.3:n.145C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "C",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "ENST00000526309.1:c.294C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1428,
          "referenceAllele": "C",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_001135024.1:c.1186C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128496.1:p.Gln396Ter",
        "hgvsWellDefined": "NP_001128496.1:p.Gln396_Ala486delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826026067",
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_001166158.1:c.550C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159630.1:p.Gln184Ter",
        "hgvsWellDefined": "NP_001159630.1:p.Gln184_Ala274delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA320448",
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "referenceAllele": "C",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_003477.2:c.1231C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003468.2:p.Gln411Ter",
        "hgvsWellDefined": "NP_003468.2:p.Gln411_Ala501delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "XM_011520390.1:c.1051C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518692.1:p.Gln351Ter",
        "hgvsWellDefined": "XP_011518692.1:p.Gln351_Ala441delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA320448",
      "coordinates": [
        {
          "allele": "T",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_003477.3:c.1231C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003468.2:p.Gln411Ter",
        "hgvsWellDefined": "NP_003468.2:p.Gln411_Ala501delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227868.9:c.1231C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003477.3:c.1231C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227868.4:p.Gln411Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003468.2:p.Gln411Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825786286",
      "coordinates": [
        {
          "allele": "T",
          "end": 1120,
          "referenceAllele": "C",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_001135024.2:c.1051C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128496.2:p.Gln351Ter",
        "hgvsWellDefined": "NP_001128496.2:p.Gln351_Ala441delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826026067",
      "coordinates": [
        {
          "allele": "T",
          "end": 588,
          "referenceAllele": "C",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021350",
      "geneNCBI_id": 8050,
      "geneSymbol": "PDHX",
      "hgvs": [
        "NM_001166158.2:c.550C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159630.1:p.Gln184Ter",
        "hgvsWellDefined": "NP_001159630.1:p.Gln184_Ala274delinsGlyGlySerPheSerIleSerAsnLeuGlyMetPheGlyIleAspGluPheThrAlaValIleAsnProProGlnAlaCysIleLeuAlaValGlyArgPheArgProValLeuLysLeuThrGluAspGluGluGlyAsnAlaLysLeuGlnGlnArgGlnLeuIleThrValThrMetSerSerAspSerArgValValAspAspGluLeuAlaThrArgPheLeuLysSerPheLysAlaAsnLeuGluAsnProIleArgLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713173"
    }
  ],
  "type": "nucleotide"
}