{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341378388",
  "communityStandardTitle": [
    "NM_000110.4(DPYD):c.1627A>C (p.Ile543Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.97981395T>G?assembly=hg19",
        "id": "chr1:g.97981395T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.97515839T>G?assembly=hg38",
        "id": "chr1:g.97515839T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1801159",
        "rs": 1801159
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 97515839,
          "referenceAllele": "T",
          "start": 97515838
        }
      ],
      "hgvs": [
        "NC_000001.11:g.97515839T>G",
        "CM000663.2:g.97515839T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 97981395,
          "referenceAllele": "T",
          "start": 97981394
        }
      ],
      "hgvs": [
        "NC_000001.10:g.97981395T>G",
        "CM000663.1:g.97981395T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 97753983,
          "referenceAllele": "T",
          "start": 97753982
        }
      ],
      "hgvs": [
        "NC_000001.9:g.97753983T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410221,
          "referenceAllele": "A",
          "start": 410220
        }
      ],
      "hgvs": [
        "NG_008807.2:g.410221A>C",
        "LRG_722:g.410221A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001226"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1739,
          "referenceAllele": "A",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.8:c.1627A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Ile543Leu",
        "hgvsWellDefined": "ENSP00000359211.3:p.Ile543Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.1627A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.1627A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Ile543Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Ile543Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1728,
          "referenceAllele": "A",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.7:c.1627A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Ile543Leu",
        "hgvsWellDefined": "ENSP00000359211.3:p.Ile543Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063875954",
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "A",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.3:c.1627A>C",
        "LRG_722t1:c.1627A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Ile543Leu",
        "hgvsWellDefined": "NP_000101.2:p.Ile543Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1661,
          "endIntronDirection": "+",
          "endIntronOffset": 33721,
          "referenceAllele": "A",
          "start": 1661,
          "startIntronDirection": "+",
          "startIntronOffset": 33720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_005270562.3:c.1524+33721A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270619.2:n.1524+33721A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "A",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.2:c.1627A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Ile543Leu",
        "hgvsWellDefined": "XP_006710460.1:p.Ile543Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "A",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.3:c.1627A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Ile543Leu",
        "hgvsWellDefined": "XP_006710460.1:p.Ile543Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1647,
          "referenceAllele": "A",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000507.1:c.1516A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855996.1:p.Ile506Leu",
        "hgvsWellDefined": "XP_016855996.1:p.Ile506Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "A",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000508.2:c.1132A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855997.1:p.Ile378Leu",
        "hgvsWellDefined": "XP_016855997.1:p.Ile378Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1816,
          "referenceAllele": "A",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000509.2:c.1132A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855998.1:p.Ile378Leu",
        "hgvsWellDefined": "XP_016855998.1:p.Ile378Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1761,
          "referenceAllele": "A",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000510.1:c.1132A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855999.1:p.Ile378Leu",
        "hgvsWellDefined": "XP_016855999.1:p.Ile378Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063875954",
      "coordinates": [
        {
          "allele": "C",
          "end": 1739,
          "referenceAllele": "A",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.4:c.1627A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Ile543Leu",
        "hgvsWellDefined": "NP_000101.2:p.Ile543Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.1627A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.1627A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Ile543Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Ile543Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}