{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2279748806",
  "communityStandardTitle": [
    "NM_001071.4(TYMS):c.279+115A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2853539",
        "rs": 2853539
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 659829,
          "referenceAllele": "A",
          "start": 659828
        }
      ],
      "hgvs": [
        "NC_000018.10:g.659829A=",
        "CM000680.2:g.659829A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 659829,
          "referenceAllele": "A",
          "start": 659828
        }
      ],
      "hgvs": [
        "NC_000018.9:g.659829A=",
        "CM000680.1:g.659829A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 649829,
          "referenceAllele": "A",
          "start": 649828
        }
      ],
      "hgvs": [
        "NC_000018.8:g.649829A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7226,
          "referenceAllele": "A",
          "start": 7225
        }
      ],
      "hgvs": [
        "NG_028255.1:g.7226A=",
        "LRG_783:g.7226A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004155"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "A",
          "start": 369,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "ENST00000323274.15:c.279+115A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315644.10:n.279+115A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323274.15:c.279+115A="
          },
          "RefSeq": {
            "hgvs": "NM_001071.4:c.279+115A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315644.10:n.279+115A="
          },
          "RefSeq": {
            "hgvs": "NP_001062.1:n.279+115A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "A",
          "start": 279,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "ENST00000323224.7:c.279+115A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314727.7:n.279+115A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 1882,
          "referenceAllele": "A",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "ENST00000323250.9:c.205+1882A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314902.5:n.205+1882A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "A",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "ENST00000323274.14:c.279+115A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315644.10:n.279+115A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "A",
          "start": 357,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "ENST00000579128.1:n.357+115A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "A",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001071.2:c.279+115A=",
        "LRG_783t1:c.279+115A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001062.1:n.279+115A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "A",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001071.3:c.279+115A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001062.1:n.279+115A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "A",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001354867.1:c.279+115A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341796.1:n.279+115A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 364,
          "endIntronDirection": "+",
          "endIntronOffset": 1882,
          "referenceAllele": "A",
          "start": 364,
          "startIntronDirection": "+",
          "startIntronOffset": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001354868.1:c.205+1882A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341797.1:n.205+1882A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "A",
          "start": 369,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001071.4:c.279+115A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001062.1:n.279+115A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663230",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323274.15:c.279+115A="
          },
          "RefSeq": {
            "hgvs": "NM_001071.4:c.279+115A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315644.10:n.279+115A="
          },
          "RefSeq": {
            "hgvs": "NP_001062.1:n.279+115A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "A",
          "start": 369,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001354867.2:c.279+115A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341796.1:n.279+115A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 295,
          "endIntronDirection": "+",
          "endIntronOffset": 1882,
          "referenceAllele": "A",
          "start": 295,
          "startIntronDirection": "+",
          "startIntronOffset": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001354868.2:c.205+1882A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341797.1:n.205+1882A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690343"
    }
  ],
  "type": "nucleotide"
}