{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5616409",
  "communityStandardTitle": [
    "NM_000769.4(CYP2C19):c.358T>C (p.Trp120Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47949[alleleid]",
        "alleleId": 47949,
        "preferredName": "NM_000769.1(CYP2C19):c.358T>C (p.Trp120Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39351",
        "RCV": [
          "RCV000394401",
          "RCV000783659"
        ],
        "variationId": 39351
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-96535173-T-C",
        "id": "10-96535173-T-C",
        "variant": "10:96535173 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.96535173T>C?assembly=hg19",
        "id": "chr10:g.96535173T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94775416T>C?assembly=hg38",
        "id": "chr10:g.94775416T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41291556",
        "rs": 41291556
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-96535173-T-C?dataset=gnomad_r2_1",
        "id": "10-96535173-T-C",
        "variant": "10:96535173 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-94775416-T-C?dataset=gnomad_r3",
        "id": "10-94775416-T-C",
        "variant": "10:94775416 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-94775416-T-C?dataset=gnomad_r4",
        "id": "10-94775416-T-C",
        "variant": "10:94775416 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 94775416,
          "referenceAllele": "T",
          "start": 94775415
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94775416T>C",
        "CM000672.2:g.94775416T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 96535173,
          "referenceAllele": "T",
          "start": 96535172
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96535173T>C",
        "CM000672.1:g.96535173T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 96525163,
          "referenceAllele": "T",
          "start": 96525162
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96525163T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17711,
          "referenceAllele": "T",
          "start": 17710
        }
      ],
      "hgvs": [
        "NG_008384.2:g.17711T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17736,
          "referenceAllele": "T",
          "start": 17735
        }
      ],
      "hgvs": [
        "NG_008384.3:g.17736T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616102"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "referenceAllele": "T",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000371321.9:c.358T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360372.3:p.Trp120Arg",
        "hgvsWellDefined": "ENSP00000360372.3:p.Trp120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750768",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371321.9:c.358T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000769.4:c.358T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360372.3:p.Trp120Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000760.1:p.Trp120Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "T",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000645461.1:n.1411T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "T",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000371321.7:c.358T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360372.3:p.Trp120Arg",
        "hgvsWellDefined": "ENSP00000360372.3:p.Trp120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1121,
          "referenceAllele": "T",
          "start": 1120
        }
      ],
      "hgvs": [
        "ENST00000464755.1:c.1121T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483243.1:n.1121T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "referenceAllele": "T",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000480405.2:c.358T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483847.1:p.Trp120Arg",
        "hgvsWellDefined": "ENSP00000483847.1:p.Trp120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645480934",
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "referenceAllele": "T",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "NM_000769.2:c.358T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000760.1:p.Trp120Arg",
        "hgvsWellDefined": "NP_000760.1:p.Trp120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645480934",
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "referenceAllele": "T",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "NM_000769.4:c.358T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000760.1:p.Trp120Arg",
        "hgvsWellDefined": "NP_000760.1:p.Trp120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371321.9:c.358T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000769.4:c.358T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360372.3:p.Trp120Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000760.1:p.Trp120Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}