{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1613558665",
  "communityStandardTitle": [
    "NM_000367.5(TPMT):c.419+94T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12201199",
        "rs": 12201199
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 18139571,
          "referenceAllele": "A",
          "start": 18139570
        }
      ],
      "hgvs": [
        "NC_000006.12:g.18139571A=",
        "CM000668.2:g.18139571A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 18139802,
          "referenceAllele": "A",
          "start": 18139801
        }
      ],
      "hgvs": [
        "NC_000006.11:g.18139802A=",
        "CM000668.1:g.18139802A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 18247781,
          "referenceAllele": "A",
          "start": 18247780
        }
      ],
      "hgvs": [
        "NC_000006.10:g.18247781A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20573,
          "referenceAllele": "T",
          "start": 20572
        }
      ],
      "hgvs": [
        "NG_012137.2:g.20573T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20573,
          "referenceAllele": "T",
          "start": 20572
        }
      ],
      "hgvs": [
        "NG_012137.3:g.20573T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733336"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "endIntronDirection": "+",
          "endIntronOffset": 94,
          "referenceAllele": "T",
          "start": 508,
          "startIntronDirection": "+",
          "startIntronOffset": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012014",
      "geneNCBI_id": 7172,
      "geneSymbol": "TPMT",
      "hgvs": [
        "ENST00000309983.5:c.419+94T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312304.4:n.419+94T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745592",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000309983.5:c.419+94T="
          },
          "RefSeq": {
            "hgvs": "NM_000367.5:c.419+94T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312304.4:n.419+94T="
          },
          "RefSeq": {
            "hgvs": "NP_000358.1:n.419+94T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "endIntronDirection": "+",
          "endIntronOffset": 94,
          "referenceAllele": "T",
          "start": 505,
          "startIntronDirection": "+",
          "startIntronOffset": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012014",
      "geneNCBI_id": 7172,
      "geneSymbol": "TPMT",
      "hgvs": [
        "ENST00000309983.4:c.419+94T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312304.4:n.419+94T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 94,
          "referenceAllele": "T",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012014",
      "geneNCBI_id": 7172,
      "geneSymbol": "TPMT",
      "hgvs": [
        "NM_000367.3:c.419+94T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000358.1:n.419+94T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "endIntronDirection": "+",
          "endIntronOffset": 94,
          "referenceAllele": "T",
          "start": 526,
          "startIntronDirection": "+",
          "startIntronOffset": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012014",
      "geneNCBI_id": 7172,
      "geneSymbol": "TPMT",
      "hgvs": [
        "XM_011514839.1:c.419+94T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513141.1:n.419+94T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 94,
          "referenceAllele": "T",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012014",
      "geneNCBI_id": 7172,
      "geneSymbol": "TPMT",
      "hgvs": [
        "XM_011514840.1:c.350+94T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513142.1:n.350+94T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "endIntronDirection": "+",
          "endIntronOffset": 94,
          "referenceAllele": "T",
          "start": 600,
          "startIntronDirection": "+",
          "startIntronOffset": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012014",
      "geneNCBI_id": 7172,
      "geneSymbol": "TPMT",
      "hgvs": [
        "NM_000367.4:c.419+94T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000358.1:n.419+94T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "endIntronDirection": "+",
          "endIntronOffset": 94,
          "referenceAllele": "T",
          "start": 979,
          "startIntronDirection": "+",
          "startIntronOffset": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012014",
      "geneNCBI_id": 7172,
      "geneSymbol": "TPMT",
      "hgvs": [
        "NM_001346817.1:c.419+94T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333746.1:n.419+94T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "endIntronDirection": "+",
          "endIntronOffset": 94,
          "referenceAllele": "T",
          "start": 600,
          "startIntronDirection": "+",
          "startIntronOffset": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012014",
      "geneNCBI_id": 7172,
      "geneSymbol": "TPMT",
      "hgvs": [
        "NM_001346818.1:c.419+94T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333747.1:n.419+94T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "endIntronDirection": "+",
          "endIntronOffset": 94,
          "referenceAllele": "T",
          "start": 508,
          "startIntronDirection": "+",
          "startIntronOffset": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012014",
      "geneNCBI_id": 7172,
      "geneSymbol": "TPMT",
      "hgvs": [
        "NM_000367.5:c.419+94T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000358.1:n.419+94T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710829",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000309983.5:c.419+94T="
          },
          "RefSeq": {
            "hgvs": "NM_000367.5:c.419+94T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312304.4:n.419+94T="
          },
          "RefSeq": {
            "hgvs": "NP_000358.1:n.419+94T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}