{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2944538",
  "communityStandardTitle": [
    "NM_001074.4(UGT2B7):c.211G>C (p.Ala71Pro)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-69962449-G-C",
        "id": "4-69962449-G-C",
        "variant": "4:69962449 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.69962449G>C?assembly=hg19",
        "id": "chr4:g.69962449G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.69096731G>C?assembly=hg38",
        "id": "chr4:g.69096731G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12233719",
        "rs": 12233719
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-69962449-G-C?dataset=gnomad_r2_1",
        "id": "4-69962449-G-C",
        "variant": "4:69962449 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-69096731-G-C?dataset=gnomad_r4",
        "id": "4-69096731-G-C",
        "variant": "4:69096731 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 69096731,
          "referenceAllele": "G",
          "start": 69096730
        }
      ],
      "hgvs": [
        "NC_000004.12:g.69096731G>C",
        "CM000666.2:g.69096731G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 69962449,
          "referenceAllele": "G",
          "start": 69962448
        }
      ],
      "hgvs": [
        "NC_000004.11:g.69962449G>C",
        "CM000666.1:g.69962449G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 69997038,
          "referenceAllele": "G",
          "start": 69997037
        }
      ],
      "hgvs": [
        "NC_000004.10:g.69997038G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000305231.12:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304811.7:p.Ala71Pro",
        "hgvsWellDefined": "ENSP00000304811.7:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745182",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305231.12:c.211G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001074.4:c.211G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304811.7:p.Ala71Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001065.2:p.Ala71Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000305231.11:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304811.7:p.Ala71Pro",
        "hgvsWellDefined": "ENSP00000304811.7:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "endIntronDirection": "-",
          "endIntronOffset": 1808,
          "referenceAllele": "G",
          "start": 372,
          "startIntronDirection": "-",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000502942.5:c.-26-1809G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426206.1:n.-26-1809G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000508661.5:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427659.1:p.Ala71Pro",
        "hgvsWellDefined": "ENSP00000427659.1:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 259,
          "endIntronDirection": "-",
          "endIntronOffset": 1808,
          "referenceAllele": "G",
          "start": 259,
          "startIntronDirection": "-",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000509763.1:n.260-1809G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1697,
          "endIntronDirection": "-",
          "endIntronOffset": 91977,
          "referenceAllele": "C",
          "start": 1697,
          "startIntronDirection": "-",
          "startIntronOffset": 91978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012545",
      "geneNCBI_id": 10720,
      "geneSymbol": "UGT2B11",
      "hgvs": [
        "ENST00000615638.4:c.*106-91978C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477842.1:n.*106-91978C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402703"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1389,
          "endIntronDirection": "-",
          "endIntronOffset": 91977,
          "referenceAllele": "C",
          "start": 1389,
          "startIntronDirection": "-",
          "startIntronOffset": 91978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012545",
      "geneNCBI_id": 10720,
      "geneSymbol": "UGT2B11",
      "hgvs": [
        "ENST00000620779.4:c.*380-91978C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478182.1:n.*380-91978C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "referenceAllele": "G",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "ENST00000622664.1:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483172.1:p.Ala71Pro",
        "hgvsWellDefined": "ENSP00000483172.1:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405826"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069876022",
      "coordinates": [
        {
          "allele": "C",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001074.2:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001065.2:p.Ala71Pro",
        "hgvsWellDefined": "NP_001065.2:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 486,
          "endIntronDirection": "-",
          "endIntronOffset": 1808,
          "referenceAllele": "G",
          "start": 486,
          "startIntronDirection": "-",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "XM_005265702.2:c.-26-1809G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265759.1:n.-26-1809G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "XM_011532229.1:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530531.1:p.Ala71Pro",
        "hgvsWellDefined": "XP_011530531.1:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "XM_011532230.1:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530532.1:p.Ala71Pro",
        "hgvsWellDefined": "XP_011530532.1:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 1808,
          "referenceAllele": "G",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "XM_011532231.1:c.-26-1809G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530533.1:n.-26-1809G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099259"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069876022",
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001074.3:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001065.2:p.Ala71Pro",
        "hgvsWellDefined": "NP_001065.2:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001330719.1:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317648.1:p.Ala71Pro",
        "hgvsWellDefined": "NP_001317648.1:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 1808,
          "referenceAllele": "G",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001349568.1:c.-26-1809G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336497.1:n.-26-1809G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "XM_011532229.2:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530531.1:p.Ala71Pro",
        "hgvsWellDefined": "XP_011530531.1:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069876022",
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001074.4:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001065.2:p.Ala71Pro",
        "hgvsWellDefined": "NP_001065.2:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663233",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305231.12:c.211G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001074.4:c.211G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304811.7:p.Ala71Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001065.2:p.Ala71Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001330719.2:c.211G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317648.1:p.Ala71Pro",
        "hgvsWellDefined": "NP_001317648.1:p.Ala71Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 360,
          "endIntronDirection": "-",
          "endIntronOffset": 1808,
          "referenceAllele": "G",
          "start": 360,
          "startIntronDirection": "-",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012554",
      "geneNCBI_id": 7364,
      "geneSymbol": "UGT2B7",
      "hgvs": [
        "NM_001349568.2:c.-26-1809G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336497.1:n.-26-1809G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719383"
    }
  ],
  "type": "nucleotide"
}