{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA761931779",
  "communityStandardTitle": [
    "NM_194250.2(ZNF804A):c.256-18109C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.185780221C>A?assembly=hg19",
        "id": "chr2:g.185780221C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.184915494C>A?assembly=hg38",
        "id": "chr2:g.184915494C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4666998",
        "rs": 4666998
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 184915494,
          "referenceAllele": "C",
          "start": 184915493
        }
      ],
      "hgvs": [
        "NC_000002.12:g.184915494C>A",
        "CM000664.2:g.184915494C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 185780221,
          "referenceAllele": "C",
          "start": 185780220
        }
      ],
      "hgvs": [
        "NC_000002.11:g.185780221C>A",
        "CM000664.1:g.185780221C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 185488466,
          "referenceAllele": "C",
          "start": 185488465
        }
      ],
      "hgvs": [
        "NC_000002.10:g.185488466C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322129,
          "referenceAllele": "C",
          "start": 322128
        }
      ],
      "hgvs": [
        "NG_046950.1:g.322129C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 686,
          "endIntronDirection": "-",
          "endIntronOffset": 18108,
          "referenceAllele": "C",
          "start": 686,
          "startIntronDirection": "-",
          "startIntronOffset": 18109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021711",
      "geneNCBI_id": 91752,
      "geneSymbol": "ZNF804A",
      "hgvs": [
        "ENST00000302277.7:c.256-18109C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303252.6:n.256-18109C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302277.7:c.256-18109C>A"
          },
          "RefSeq": {
            "hgvs": "NM_194250.2:c.256-18109C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303252.6:n.256-18109C>A"
          },
          "RefSeq": {
            "hgvs": "NP_919226.1:n.256-18109C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "endIntronDirection": "-",
          "endIntronOffset": 18108,
          "referenceAllele": "C",
          "start": 849,
          "startIntronDirection": "-",
          "startIntronOffset": 18109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021711",
      "geneNCBI_id": 91752,
      "geneSymbol": "ZNF804A",
      "hgvs": [
        "ENST00000302277.6:c.256-18109C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303252.6:n.256-18109C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 18108,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 18109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021711",
      "geneNCBI_id": 91752,
      "geneSymbol": "ZNF804A",
      "hgvs": [
        "ENST00000613975.1:c.1-18109C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483032.1:n.1-18109C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "endIntronDirection": "-",
          "endIntronOffset": 18108,
          "referenceAllele": "C",
          "start": 849,
          "startIntronDirection": "-",
          "startIntronOffset": 18109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021711",
      "geneNCBI_id": 91752,
      "geneSymbol": "ZNF804A",
      "hgvs": [
        "NM_194250.1:c.256-18109C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_919226.1:n.256-18109C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 686,
          "endIntronDirection": "-",
          "endIntronOffset": 18108,
          "referenceAllele": "C",
          "start": 686,
          "startIntronDirection": "-",
          "startIntronOffset": 18109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021711",
      "geneNCBI_id": 91752,
      "geneSymbol": "ZNF804A",
      "hgvs": [
        "NM_194250.2:c.256-18109C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_919226.1:n.256-18109C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673063",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302277.7:c.256-18109C>A"
          },
          "RefSeq": {
            "hgvs": "NM_194250.2:c.256-18109C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303252.6:n.256-18109C>A"
          },
          "RefSeq": {
            "hgvs": "NP_919226.1:n.256-18109C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}