{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1381564000",
  "communityStandardTitle": [
    "NM_000306.4(POU1F1):c.811C= (p.Arg271=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893755",
        "rs": 104893755
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 87259959,
          "referenceAllele": "G",
          "start": 87259958
        }
      ],
      "hgvs": [
        "NC_000003.12:g.87259959G=",
        "CM000665.2:g.87259959G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 87309109,
          "referenceAllele": "G",
          "start": 87309108
        }
      ],
      "hgvs": [
        "NC_000003.11:g.87309109G=",
        "CM000665.1:g.87309109G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 87391799,
          "referenceAllele": "G",
          "start": 87391798
        }
      ],
      "hgvs": [
        "NC_000003.10:g.87391799G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21629,
          "referenceAllele": "C",
          "start": 21628
        }
      ],
      "hgvs": [
        "NG_008225.2:g.21629C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000957"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000344265.8:c.889C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342931.3:p.Arg297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 933,
          "referenceAllele": "C",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000350375.7:c.811C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263781.2:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748435",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350375.7:c.811C="
          },
          "RefSeq": {
            "hgvs": "NM_000306.4:c.811C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263781.2:p.Arg271="
          },
          "RefSeq": {
            "hgvs": "NP_000297.1:p.Arg271="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000344265.7:c.889C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342931.3:p.Arg297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 936,
          "referenceAllele": "C",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000350375.6:c.811C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263781.2:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 585,
          "referenceAllele": "C",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000560656.1:c.585C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452610.1:n.585C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "ENST00000561167.5:c.586C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454072.1:p.Arg196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375904"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068384545",
      "coordinates": [
        {
          "allele": "C",
          "end": 936,
          "referenceAllele": "C",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "NM_000306.3:c.811C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000297.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1014,
          "referenceAllele": "C",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "NM_001122757.2:c.889C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116229.1:p.Arg297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068384545",
      "coordinates": [
        {
          "allele": "C",
          "end": 933,
          "referenceAllele": "C",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "NM_000306.4:c.811C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000297.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674780",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350375.7:c.811C="
          },
          "RefSeq": {
            "hgvs": "NM_000306.4:c.811C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263781.2:p.Arg271="
          },
          "RefSeq": {
            "hgvs": "NP_000297.1:p.Arg271="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "NM_001122757.3:c.889C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116229.1:p.Arg297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676779"
    }
  ],
  "type": "nucleotide"
}