{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA670164182",
  "communityStandardTitle": [
    "NM_000769.4(CYP2C19):c.482-12C>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.96540244C>G?assembly=hg19",
        "id": "chr10:g.96540244C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94780487C>G?assembly=hg38",
        "id": "chr10:g.94780487C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1471623221",
        "rs": 1471623221
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-94780487-C-G?dataset=gnomad_r3",
        "id": "10-94780487-C-G",
        "variant": "10:94780487 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-94780487-C-G?dataset=gnomad_r4",
        "id": "10-94780487-C-G",
        "variant": "10:94780487 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 94780487,
          "referenceAllele": "C",
          "start": 94780486
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94780487C>G",
        "CM000672.2:g.94780487C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 96540244,
          "referenceAllele": "C",
          "start": 96540243
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96540244C>G",
        "CM000672.1:g.96540244C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 96530234,
          "referenceAllele": "C",
          "start": 96530233
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96530234C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22782,
          "referenceAllele": "C",
          "start": 22781
        }
      ],
      "hgvs": [
        "NG_008384.2:g.22782C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22807,
          "referenceAllele": "C",
          "start": 22806
        }
      ],
      "hgvs": [
        "NG_008384.3:g.22807C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616102"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "C",
          "start": 506,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000371321.9:c.482-12C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360372.3:n.482-12C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750768",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371321.9:c.482-12C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000769.4:c.482-12C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360372.3:n.482-12C>G"
          },
          "RefSeq": {
            "hgvs": "NP_000760.1:n.482-12C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1534,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "C",
          "start": 1534,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000645461.1:n.1535-12C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 563,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "C",
          "start": 563,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000371321.7:c.482-12C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360372.3:n.482-12C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1244,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "C",
          "start": 1244,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "hgvs": [
        "ENST00000464755.1:c.1245-12C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483243.1:n.1245-12C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "C",
          "start": 506,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "NM_000769.2:c.482-12C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000760.1:n.482-12C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "C",
          "start": 506,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "NM_000769.4:c.482-12C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000760.1:n.482-12C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371321.9:c.482-12C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000769.4:c.482-12C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360372.3:n.482-12C>G"
          },
          "RefSeq": {
            "hgvs": "NP_000760.1:n.482-12C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}