{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1335825479",
  "communityStandardTitle": [
    "NM_019076.5(UGT1A8):c.518C= (p.Ala173=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1042597",
        "rs": 1042597
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553596923",
        "rs": 1553596923
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 233618225,
          "referenceAllele": "C",
          "start": 233618224
        }
      ],
      "hgvs": [
        "NC_000002.12:g.233618225C=",
        "CM000664.2:g.233618225C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 234526871,
          "referenceAllele": "C",
          "start": 234526870
        }
      ],
      "hgvs": [
        "NC_000002.11:g.234526871C=",
        "CM000664.1:g.234526871C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 234191610,
          "referenceAllele": "C",
          "start": 234191609
        }
      ],
      "hgvs": [
        "NC_000002.10:g.234191610C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 33482,
          "referenceAllele": "C",
          "start": 33481
        }
      ],
      "hgvs": [
        "NG_002601.2:g.33482C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000436"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012540",
      "geneNCBI_id": 54576,
      "geneSymbol": "UGT1A8",
      "hgvs": [
        "ENST00000373450.5:c.518C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362549.4:p.Ala173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373450.5:c.518C="
          },
          "RefSeq": {
            "hgvs": "NM_019076.5:c.518C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362549.4:p.Ala173="
          },
          "RefSeq": {
            "hgvs": "NP_061949.3:p.Ala173="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012540",
      "geneNCBI_id": 54576,
      "geneSymbol": "UGT1A8",
      "hgvs": [
        "ENST00000373450.4:c.518C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362549.4:p.Ala173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066500199",
      "coordinates": [
        {
          "allele": "C",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012540",
      "geneNCBI_id": 54576,
      "geneSymbol": "UGT1A8",
      "hgvs": [
        "NM_019076.4:c.518C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061949.3:p.Ala173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066500199",
      "coordinates": [
        {
          "allele": "C",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012540",
      "geneNCBI_id": 54576,
      "geneSymbol": "UGT1A8",
      "hgvs": [
        "NM_019076.5:c.518C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061949.3:p.Ala173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728391",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373450.5:c.518C="
          },
          "RefSeq": {
            "hgvs": "NM_019076.5:c.518C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362549.4:p.Ala173="
          },
          "RefSeq": {
            "hgvs": "NP_061949.3:p.Ala173="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}