{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2441497570",
  "communityStandardTitle": [
    "NM_000307.5(POU3F4):c.1000A= (p.Lys334=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894922",
        "rs": 104894922
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 83509324,
          "referenceAllele": "A",
          "start": 83509323
        }
      ],
      "hgvs": [
        "NC_000023.11:g.83509324A=",
        "CM000685.2:g.83509324A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 82764332,
          "referenceAllele": "A",
          "start": 82764331
        }
      ],
      "hgvs": [
        "NC_000023.10:g.82764332A=",
        "CM000685.1:g.82764332A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 82650988,
          "referenceAllele": "A",
          "start": 82650987
        }
      ],
      "hgvs": [
        "NC_000023.9:g.82650988A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6064,
          "referenceAllele": "A",
          "start": 6063
        }
      ],
      "hgvs": [
        "NG_009936.2:g.6064A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001702"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "A",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "ENST00000644024.2:c.1000A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495996.1:p.Lys334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767594",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644024.2:c.1000A="
          },
          "RefSeq": {
            "hgvs": "NM_000307.5:c.1000A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495996.1:p.Lys334="
          },
          "RefSeq": {
            "hgvs": "NP_000298.3:p.Lys334="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1075,
          "referenceAllele": "A",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "ENST00000373200.4:c.1000A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362296.2:p.Lys334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194423",
      "coordinates": [
        {
          "allele": "A",
          "end": 1064,
          "referenceAllele": "A",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "NM_000307.4:c.1000A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000298.3:p.Lys334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194423",
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "A",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "NM_000307.5:c.1000A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000298.3:p.Lys334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674781",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644024.2:c.1000A="
          },
          "RefSeq": {
            "hgvs": "NM_000307.5:c.1000A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495996.1:p.Lys334="
          },
          "RefSeq": {
            "hgvs": "NP_000298.3:p.Lys334="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}