{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250626",
  "communityStandardTitle": [
    "NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5400058",
        "active": true,
        "id": "COSM5400058"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5400059",
        "active": true,
        "id": "COSM5400059"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28653[alleleid]",
        "alleleId": 28653,
        "preferredName": "NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13614",
        "RCV": [
          "RCV000014584",
          "RCV000521929",
          "RCV003323359"
        ],
        "variationId": 13614
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-87311310-C-T",
        "id": "3-87311310-C-T",
        "variant": "3:87311310 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.87311310C>T?assembly=hg19",
        "id": "chr3:g.87311310C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.87262160C>T?assembly=hg38",
        "id": "chr3:g.87262160C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893765",
        "rs": 104893765
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-87311310-C-T?dataset=gnomad_r2_1",
        "id": "3-87311310-C-T",
        "variant": "3:87311310 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-87262160-C-T?dataset=gnomad_r4",
        "id": "3-87262160-C-T",
        "variant": "3:87262160 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 87262160,
          "referenceAllele": "C",
          "start": 87262159
        }
      ],
      "hgvs": [
        "NC_000003.12:g.87262160C>T",
        "CM000665.2:g.87262160C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 87311310,
          "referenceAllele": "C",
          "start": 87311309
        }
      ],
      "hgvs": [
        "NC_000003.11:g.87311310C>T",
        "CM000665.1:g.87311310C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 87394000,
          "referenceAllele": "C",
          "start": 87393999
        }
      ],
      "hgvs": [
        "NC_000003.10:g.87394000C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19428,
          "referenceAllele": "G",
          "start": 19427
        }
      ],
      "hgvs": [
        "NG_008225.2:g.19428G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000957"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000344265.8:c.593G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342931.3:p.Arg198Gln",
        "hgvsWellDefined": "ENSP00000342931.3:p.Arg198Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000350375.7:c.515G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263781.2:p.Arg172Gln",
        "hgvsWellDefined": "ENSP00000263781.2:p.Arg172Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748435",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350375.7:c.515G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000306.4:c.515G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263781.2:p.Arg172Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000297.1:p.Arg172Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000344265.7:c.593G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342931.3:p.Arg198Gln",
        "hgvsWellDefined": "ENSP00000342931.3:p.Arg198Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000350375.6:c.515G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263781.2:p.Arg172Gln",
        "hgvsWellDefined": "ENSP00000263781.2:p.Arg172Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "endIntronDirection": "-",
          "endIntronOffset": 2055,
          "referenceAllele": "G",
          "start": 439,
          "startIntronDirection": "-",
          "startIntronOffset": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000560656.1:c.440-2056G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452610.1:n.440-2056G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 290,
          "referenceAllele": "G",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000561167.5:c.290G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454072.1:p.Arg97Gln",
        "hgvsWellDefined": "ENSP00000454072.1:p.Arg97Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375904"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110514",
      "coordinates": [
        {
          "allele": "A",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "NM_000306.3:c.515G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000297.1:p.Arg172Gln",
        "hgvsWellDefined": "NP_000297.1:p.Arg172Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA250627",
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "referenceAllele": "G",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "NM_001122757.2:c.593G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116229.1:p.Arg198Gln",
        "hgvsWellDefined": "NP_001116229.1:p.Arg198Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110514",
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "NM_000306.4:c.515G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000297.1:p.Arg172Gln",
        "hgvsWellDefined": "NP_000297.1:p.Arg172Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674780",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350375.7:c.515G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000306.4:c.515G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263781.2:p.Arg172Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000297.1:p.Arg172Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA250627",
      "coordinates": [
        {
          "allele": "A",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "NM_001122757.3:c.593G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116229.1:p.Arg198Gln",
        "hgvsWellDefined": "NP_001116229.1:p.Arg198Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676779"
    }
  ],
  "type": "nucleotide"
}