{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140278168",
  "communityStandardTitle": [
    "NM_000110.4(DPYD):c.2622+5555G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11587873",
        "rs": 11587873
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 97187514,
          "referenceAllele": "C",
          "start": 97187513
        }
      ],
      "hgvs": [
        "NC_000001.11:g.97187514C=",
        "CM000663.2:g.97187514C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 97653070,
          "referenceAllele": "C",
          "start": 97653069
        }
      ],
      "hgvs": [
        "NC_000001.10:g.97653070C=",
        "CM000663.1:g.97653070C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 97425658,
          "referenceAllele": "C",
          "start": 97425657
        }
      ],
      "hgvs": [
        "NC_000001.9:g.97425658C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 738546,
          "referenceAllele": "G",
          "start": 738545
        }
      ],
      "hgvs": [
        "NG_008807.2:g.738546G=",
        "LRG_722:g.738546G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001226"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2734,
          "endIntronDirection": "+",
          "endIntronOffset": 5555,
          "referenceAllele": "G",
          "start": 2734,
          "startIntronDirection": "+",
          "startIntronOffset": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.8:c.2622+5555G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:n.2622+5555G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.2622+5555G="
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.2622+5555G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:n.2622+5555G="
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:n.2622+5555G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2723,
          "endIntronDirection": "+",
          "endIntronOffset": 5555,
          "referenceAllele": "G",
          "start": 2723,
          "startIntronDirection": "+",
          "startIntronOffset": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.7:c.2622+5555G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:n.2622+5555G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2759,
          "endIntronDirection": "+",
          "endIntronOffset": 5555,
          "referenceAllele": "G",
          "start": 2759,
          "startIntronDirection": "+",
          "startIntronOffset": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.3:c.2622+5555G=",
        "LRG_722t1:c.2622+5555G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:n.2622+5555G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "endIntronDirection": "-",
          "endIntronOffset": 77899,
          "referenceAllele": "C",
          "start": 64,
          "startIntronDirection": "-",
          "startIntronOffset": 77900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040195",
      "geneNCBI_id": 100873932,
      "geneSymbol": "DPYD-AS1",
      "hgvs": [
        "NR_046590.1:n.65-77900C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2543,
          "endIntronDirection": "+",
          "endIntronOffset": 5555,
          "referenceAllele": "G",
          "start": 2543,
          "startIntronDirection": "+",
          "startIntronOffset": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_005270562.3:c.2406+5555G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005270619.2:n.2406+5555G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2642,
          "endIntronDirection": "+",
          "endIntronOffset": 5555,
          "referenceAllele": "G",
          "start": 2642,
          "startIntronDirection": "+",
          "startIntronOffset": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000507.1:c.2511+5555G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016855996.1:n.2511+5555G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2912,
          "endIntronDirection": "+",
          "endIntronOffset": 5555,
          "referenceAllele": "G",
          "start": 2912,
          "startIntronDirection": "+",
          "startIntronOffset": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000508.2:c.2127+5555G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016855997.1:n.2127+5555G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2811,
          "endIntronDirection": "+",
          "endIntronOffset": 5555,
          "referenceAllele": "G",
          "start": 2811,
          "startIntronDirection": "+",
          "startIntronOffset": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000509.2:c.2127+5555G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016855998.1:n.2127+5555G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2756,
          "endIntronDirection": "+",
          "endIntronOffset": 5555,
          "referenceAllele": "G",
          "start": 2756,
          "startIntronDirection": "+",
          "startIntronOffset": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000510.1:c.2127+5555G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016855999.1:n.2127+5555G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2734,
          "endIntronDirection": "+",
          "endIntronOffset": 5555,
          "referenceAllele": "G",
          "start": 2734,
          "startIntronDirection": "+",
          "startIntronOffset": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.4:c.2622+5555G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:n.2622+5555G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.2622+5555G="
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.2622+5555G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:n.2622+5555G="
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:n.2622+5555G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}