{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144620",
  "communityStandardTitle": [
    "NM_005391.5(PDK3):c.473G>A (p.Arg158His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3708568",
        "active": true,
        "id": "COSM3708568"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3708569",
        "active": true,
        "id": "COSM3708569"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75256[alleleid]",
        "alleleId": 75256,
        "preferredName": "NM_005391.5(PDK3):c.473G>A (p.Arg158His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/60682",
        "RCV": [
          "RCV000054495",
          "RCV004018967"
        ],
        "variationId": 60682
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.24521596G>A?assembly=hg19",
        "id": "chrX:g.24521596G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.24503479G>A?assembly=hg38",
        "id": "chrX:g.24503479G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515323",
        "rs": 397515323
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 24503479,
          "referenceAllele": "G",
          "start": 24503478
        }
      ],
      "hgvs": [
        "NC_000023.11:g.24503479G>A",
        "CM000685.2:g.24503479G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 24521596,
          "referenceAllele": "G",
          "start": 24521595
        }
      ],
      "hgvs": [
        "NC_000023.10:g.24521596G>A",
        "CM000685.1:g.24521596G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 24431517,
          "referenceAllele": "G",
          "start": 24431516
        }
      ],
      "hgvs": [
        "NC_000023.9:g.24431517G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43253,
          "referenceAllele": "G",
          "start": 43252
        }
      ],
      "hgvs": [
        "NG_016762.1:g.43253G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003287"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008811",
      "geneNCBI_id": 5165,
      "geneSymbol": "PDK3",
      "hgvs": [
        "ENST00000379162.9:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368460.4:p.Arg158His",
        "hgvsWellDefined": "ENSP00000368460.4:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379162.9:c.473G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005391.5:c.473G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368460.4:p.Arg158His"
          },
          "RefSeq": {
            "hgvs": "NP_005382.1:p.Arg158His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008811",
      "geneNCBI_id": 5165,
      "geneSymbol": "PDK3",
      "hgvs": [
        "ENST00000568479.2:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498864.1:p.Arg158His",
        "hgvsWellDefined": "ENSP00000498864.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008811",
      "geneNCBI_id": 5165,
      "geneSymbol": "PDK3",
      "hgvs": [
        "ENST00000648777.1:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497727.1:p.Arg158His",
        "hgvsWellDefined": "ENSP00000497727.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "referenceAllele": "G",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008811",
      "geneNCBI_id": 5165,
      "geneSymbol": "PDK3",
      "hgvs": [
        "ENST00000379162.8:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368460.4:p.Arg158His",
        "hgvsWellDefined": "ENSP00000368460.4:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008811",
      "geneNCBI_id": 5165,
      "geneSymbol": "PDK3",
      "hgvs": [
        "ENST00000441463.2:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387536.2:p.Arg158His",
        "hgvsWellDefined": "ENSP00000387536.2:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144621",
      "coordinates": [
        {
          "allele": "A",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008811",
      "geneNCBI_id": 5165,
      "geneSymbol": "PDK3",
      "hgvs": [
        "NM_001142386.2:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135858.1:p.Arg158His",
        "hgvsWellDefined": "NP_001135858.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012856"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101736",
      "coordinates": [
        {
          "allele": "A",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008811",
      "geneNCBI_id": 5165,
      "geneSymbol": "PDK3",
      "hgvs": [
        "NM_005391.4:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005382.1:p.Arg158His",
        "hgvsWellDefined": "NP_005382.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144621",
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008811",
      "geneNCBI_id": 5165,
      "geneSymbol": "PDK3",
      "hgvs": [
        "NM_001142386.3:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135858.1:p.Arg158His",
        "hgvsWellDefined": "NP_001135858.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677514"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101736",
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008811",
      "geneNCBI_id": 5165,
      "geneSymbol": "PDK3",
      "hgvs": [
        "NM_005391.5:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005382.1:p.Arg158His",
        "hgvsWellDefined": "NP_005382.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727628",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379162.9:c.473G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005391.5:c.473G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368460.4:p.Arg158His"
          },
          "RefSeq": {
            "hgvs": "NP_005382.1:p.Arg158His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}