{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3081745124",
  "communityStandardTitle": [
    "NM_144701.3(IL23R):c.1837C= (p.Pro613=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2525563678",
        "rs": 2525563678
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67259075,
          "referenceAllele": "C",
          "start": 67259074
        }
      ],
      "hgvs": [
        "NC_000001.11:g.67259075C=",
        "CM000663.2:g.67259075C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67724758,
          "referenceAllele": "C",
          "start": 67724757
        }
      ],
      "hgvs": [
        "NC_000001.10:g.67724758C=",
        "CM000663.1:g.67724758C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67497346,
          "referenceAllele": "C",
          "start": 67497345
        }
      ],
      "hgvs": [
        "NC_000001.9:g.67497346C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97590,
          "referenceAllele": "C",
          "start": 97589
        }
      ],
      "hgvs": [
        "NG_011498.1:g.97590C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001766"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697149.1:c.1676C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513138.1:n.1676C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1734,
          "referenceAllele": "C",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697150.1:c.1734C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513139.1:n.1734C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1667,
          "referenceAllele": "C",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697151.1:c.1667C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513140.1:n.1667C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1747,
          "referenceAllele": "C",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697164.1:c.1747C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513153.1:p.Pro583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1534,
          "referenceAllele": "C",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697165.1:c.1534C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513154.1:p.Pro512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1954,
          "referenceAllele": "C",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.10:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Pro613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1837C="
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1837C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Pro613="
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Pro613="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2116,
          "referenceAllele": "C",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000637002.1:c.1228C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490340.1:p.Pro410="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2008,
          "referenceAllele": "C",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.9:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Pro613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000395227.2:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378652.2:p.Pro211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000425614.3:c.1072C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387640.2:p.Pro358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000473881.2:c.*663C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486667.1:n.*663C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066244200",
      "coordinates": [
        {
          "allele": "C",
          "end": 1922,
          "referenceAllele": "C",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.2:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Pro613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1568,
          "referenceAllele": "C",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_005270516.2:c.1075C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005270573.1:p.Pro359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2451,
          "referenceAllele": "C",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540789.1:c.1927C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539091.1:p.Pro643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2388,
          "referenceAllele": "C",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.1:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Pro613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.1:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Pro613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2389,
          "referenceAllele": "C",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.3:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Pro613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.3:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Pro613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "C",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XR_001736993.1:n.1917C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066244200",
      "coordinates": [
        {
          "allele": "C",
          "end": 1954,
          "referenceAllele": "C",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.3:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Pro613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1837C="
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1837C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Pro613="
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Pro613="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}