{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1173064446",
  "communityStandardTitle": [
    "NM_144701.3(IL23R):c.*221G>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1653118603",
        "rs": 1653118603
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67259349,
          "referenceAllele": "G",
          "start": 67259348
        }
      ],
      "hgvs": [
        "NC_000001.11:g.67259349G>C",
        "CM000663.2:g.67259349G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67725032,
          "referenceAllele": "G",
          "start": 67725031
        }
      ],
      "hgvs": [
        "NC_000001.10:g.67725032G>C",
        "CM000663.1:g.67725032G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67497620,
          "referenceAllele": "G",
          "start": 67497619
        }
      ],
      "hgvs": [
        "NC_000001.9:g.67497620G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97864,
          "referenceAllele": "G",
          "start": 97863
        }
      ],
      "hgvs": [
        "NG_011498.1:g.97864G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001766"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2228,
          "referenceAllele": "G",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.10:c.*221G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:n.*221G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.*221G>C"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.*221G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:n.*221G>C"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:n.*221G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2282,
          "referenceAllele": "G",
          "start": 2281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.9:c.*221G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:n.*221G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1137,
          "referenceAllele": "G",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000395227.2:c.*221G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378652.2:n.*221G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000473881.2:c.*937G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486667.1:n.*937G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2196,
          "referenceAllele": "G",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.2:c.*221G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:n.*221G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1842,
          "referenceAllele": "G",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_005270516.2:c.*221G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270573.1:n.*221G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2725,
          "referenceAllele": "G",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540789.1:c.*221G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539091.1:n.*221G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2662,
          "referenceAllele": "G",
          "start": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.1:c.*221G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:n.*221G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2181,
          "referenceAllele": "G",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.1:c.*221G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:n.*221G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2663,
          "referenceAllele": "G",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.3:c.*221G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:n.*221G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2181,
          "referenceAllele": "G",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.3:c.*221G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:n.*221G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2228,
          "referenceAllele": "G",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.3:c.*221G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:n.*221G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.*221G>C"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.*221G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:n.*221G>C"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:n.*221G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}