{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1466049336",
  "communityStandardTitle": [
    "NM_001074.4(UGT2B7):c.137T= (p.Leu46=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61361928",
        "rs": 61361928
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 69096657,
          "referenceAllele": "T",
          "start": 69096656
        }
      ],
      "hgvs": [
        "NC_000004.12:g.69096657T=",
        "CM000666.2:g.69096657T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 69962375,
          "referenceAllele": "T",
          "start": 69962374
        }
      ],
      "hgvs": [
        "NC_000004.11:g.69962375T=",
        "CM000666.1:g.69962375T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 69996964,
          "referenceAllele": "T",
          "start": 69996963
        }
      ],
      "hgvs": [
        "NC_000004.10:g.69996964T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000305231.12:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304811.7:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745182",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305231.12:c.137T="
          },
          "RefSeq": {
            "hgvs": "NM_001074.4:c.137T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304811.7:p.Leu46="
          },
          "RefSeq": {
            "hgvs": "NP_001065.2:p.Leu46="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "T",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000305231.11:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304811.7:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 372,
          "endIntronDirection": "-",
          "endIntronOffset": 1882,
          "referenceAllele": "T",
          "start": 372,
          "startIntronDirection": "-",
          "startIntronOffset": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000502942.5:c.-26-1883T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426206.1:n.-26-1883T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "T",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000508661.5:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427659.1:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 259,
          "endIntronDirection": "-",
          "endIntronOffset": 1882,
          "referenceAllele": "T",
          "start": 259,
          "startIntronDirection": "-",
          "startIntronOffset": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000509763.1:n.260-1883T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340457"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1697,
          "endIntronDirection": "-",
          "endIntronOffset": 91903,
          "referenceAllele": "A",
          "start": 1697,
          "startIntronDirection": "-",
          "startIntronOffset": 91904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012545",
      "geneNCBI_id": 10720,
      "geneSymbol": "UGT2B11",
      "hgvs": [
        "ENST00000615638.4:c.*106-91904A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477842.1:n.*106-91904A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1389,
          "endIntronDirection": "-",
          "endIntronOffset": 91903,
          "referenceAllele": "A",
          "start": 1389,
          "startIntronDirection": "-",
          "startIntronOffset": 91904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012545",
      "geneNCBI_id": 10720,
      "geneSymbol": "UGT2B11",
      "hgvs": [
        "ENST00000620779.4:c.*380-91904A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478182.1:n.*380-91904A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404976"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 139,
          "referenceAllele": "T",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000622664.1:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483172.1:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405826"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069879496",
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "T",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001074.2:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001065.2:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "endIntronDirection": "-",
          "endIntronOffset": 1882,
          "referenceAllele": "T",
          "start": 486,
          "startIntronDirection": "-",
          "startIntronOffset": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "XM_005265702.2:c.-26-1883T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005265759.1:n.-26-1883T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "XM_011532229.1:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530531.1:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "XM_011532230.1:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530532.1:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 1882,
          "referenceAllele": "T",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "XM_011532231.1:c.-26-1883T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530533.1:n.-26-1883T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099259"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069879496",
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001074.3:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001065.2:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001330719.1:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317648.1:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 1882,
          "referenceAllele": "T",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001349568.1:c.-26-1883T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336497.1:n.-26-1883T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "XM_011532229.2:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530531.1:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069879496",
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001074.4:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001065.2:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663233",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305231.12:c.137T="
          },
          "RefSeq": {
            "hgvs": "NM_001074.4:c.137T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304811.7:p.Leu46="
          },
          "RefSeq": {
            "hgvs": "NP_001065.2:p.Leu46="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001330719.2:c.137T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317648.1:p.Leu46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "endIntronDirection": "-",
          "endIntronOffset": 1882,
          "referenceAllele": "T",
          "start": 360,
          "startIntronDirection": "-",
          "startIntronOffset": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001349568.2:c.-26-1883T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336497.1:n.-26-1883T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719383"
    }
  ],
  "type": "nucleotide"
}