{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2991933748",
  "communityStandardTitle": [
    "NM_144701.3(IL23R):c.*56T>C"
  ],
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67259184,
          "referenceAllele": "T",
          "start": 67259183
        }
      ],
      "hgvs": [
        "NC_000001.11:g.67259184T>C",
        "CM000663.2:g.67259184T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67724867,
          "referenceAllele": "T",
          "start": 67724866
        }
      ],
      "hgvs": [
        "NC_000001.10:g.67724867T>C",
        "CM000663.1:g.67724867T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67497455,
          "referenceAllele": "T",
          "start": 67497454
        }
      ],
      "hgvs": [
        "NC_000001.9:g.67497455T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97699,
          "referenceAllele": "T",
          "start": 97698
        }
      ],
      "hgvs": [
        "NG_011498.1:g.97699T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001766"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2063,
          "referenceAllele": "T",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.10:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.*56T>C"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.*56T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:n.*56T>C"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:n.*56T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2117,
          "referenceAllele": "T",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.9:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "referenceAllele": "T",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000395227.2:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378652.2:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1231,
          "referenceAllele": "T",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000425614.3:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387640.2:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1016,
          "referenceAllele": "T",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000473881.2:c.*772T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486667.1:n.*772T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2031,
          "referenceAllele": "T",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.2:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1677,
          "referenceAllele": "T",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_005270516.2:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270573.1:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2560,
          "referenceAllele": "T",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540789.1:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539091.1:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2497,
          "referenceAllele": "T",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.1:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2016,
          "referenceAllele": "T",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.1:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2498,
          "referenceAllele": "T",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.3:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2016,
          "referenceAllele": "T",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.3:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2063,
          "referenceAllele": "T",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.3:c.*56T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:n.*56T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.*56T>C"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.*56T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:n.*56T>C"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:n.*56T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}