{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA228118",
  "communityStandardTitle": [
    "NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94530[alleleid]",
        "alleleId": 94530,
        "preferredName": "NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/88975",
        "RCV": [
          "RCV000086474",
          "RCV000410952",
          "RCV001787866",
          "RCV001787867",
          "RCV001787868",
          "RCV001787326"
        ],
        "variationId": 88975
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-97981343-A-C",
        "id": "1-97981343-A-C",
        "variant": "1:97981343 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.97981343A>C?assembly=hg19",
        "id": "chr1:g.97981343A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.97515787A>C?assembly=hg38",
        "id": "chr1:g.97515787A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/55886062",
        "rs": 55886062
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-97981343-A-C?dataset=gnomad_r2_1",
        "id": "1-97981343-A-C",
        "variant": "1:97981343 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-97515787-A-C?dataset=gnomad_r3",
        "id": "1-97515787-A-C",
        "variant": "1:97515787 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-97515787-A-C?dataset=gnomad_r4",
        "id": "1-97515787-A-C",
        "variant": "1:97515787 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 97515787,
          "referenceAllele": "A",
          "start": 97515786
        }
      ],
      "hgvs": [
        "NC_000001.11:g.97515787A>C",
        "CM000663.2:g.97515787A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 97981343,
          "referenceAllele": "A",
          "start": 97981342
        }
      ],
      "hgvs": [
        "NC_000001.10:g.97981343A>C",
        "CM000663.1:g.97981343A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 97753931,
          "referenceAllele": "A",
          "start": 97753930
        }
      ],
      "hgvs": [
        "NC_000001.9:g.97753931A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 410273,
          "referenceAllele": "T",
          "start": 410272
        }
      ],
      "hgvs": [
        "NG_008807.2:g.410273T>G",
        "LRG_722:g.410273T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001226"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "T",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.8:c.1679T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Ile560Ser",
        "hgvsWellDefined": "ENSP00000359211.3:p.Ile560Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.1679T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.1679T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Ile560Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Ile560Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1780,
          "referenceAllele": "T",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.7:c.1679T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Ile560Ser",
        "hgvsWellDefined": "ENSP00000359211.3:p.Ile560Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA228120",
      "coordinates": [
        {
          "allele": "G",
          "end": 1816,
          "referenceAllele": "T",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.3:c.1679T>G",
        "LRG_722t1:c.1679T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Ile560Ser",
        "hgvsWellDefined": "NP_000101.2:p.Ile560Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1661,
          "endIntronDirection": "+",
          "endIntronOffset": 33773,
          "referenceAllele": "T",
          "start": 1661,
          "startIntronDirection": "+",
          "startIntronOffset": 33772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_005270562.3:c.1524+33773T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270619.2:n.1524+33773T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1816,
          "referenceAllele": "T",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.2:c.1679T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Ile560Ser",
        "hgvsWellDefined": "XP_006710460.1:p.Ile560Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1816,
          "referenceAllele": "T",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.3:c.1679T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Ile560Ser",
        "hgvsWellDefined": "XP_006710460.1:p.Ile560Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1699,
          "referenceAllele": "T",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000507.1:c.1568T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855996.1:p.Ile523Ser",
        "hgvsWellDefined": "XP_016855996.1:p.Ile523Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1969,
          "referenceAllele": "T",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000508.2:c.1184T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855997.1:p.Ile395Ser",
        "hgvsWellDefined": "XP_016855997.1:p.Ile395Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1868,
          "referenceAllele": "T",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000509.2:c.1184T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855998.1:p.Ile395Ser",
        "hgvsWellDefined": "XP_016855998.1:p.Ile395Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1813,
          "referenceAllele": "T",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000510.1:c.1184T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855999.1:p.Ile395Ser",
        "hgvsWellDefined": "XP_016855999.1:p.Ile395Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA228120",
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "T",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.4:c.1679T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Ile560Ser",
        "hgvsWellDefined": "NP_000101.2:p.Ile560Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.1679T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.1679T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Ile560Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Ile560Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}