{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1143901579",
  "communityStandardTitle": [
    "NM_144701.3(IL23R):c.1876C= (p.Leu626=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373028008",
        "rs": 373028008
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67259114,
          "referenceAllele": "C",
          "start": 67259113
        }
      ],
      "hgvs": [
        "NC_000001.11:g.67259114C=",
        "CM000663.2:g.67259114C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67724797,
          "referenceAllele": "C",
          "start": 67724796
        }
      ],
      "hgvs": [
        "NC_000001.10:g.67724797C=",
        "CM000663.1:g.67724797C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67497385,
          "referenceAllele": "C",
          "start": 67497384
        }
      ],
      "hgvs": [
        "NC_000001.9:g.67497385C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97629,
          "referenceAllele": "C",
          "start": 97628
        }
      ],
      "hgvs": [
        "NG_011498.1:g.97629C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001766"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1715,
          "referenceAllele": "C",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697149.1:c.1715C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513138.1:n.1715C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1773,
          "referenceAllele": "C",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697150.1:c.1773C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513139.1:n.1773C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1706,
          "referenceAllele": "C",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697151.1:c.1706C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513140.1:n.1706C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1786,
          "referenceAllele": "C",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697164.1:c.1786C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513153.1:p.Leu596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697165.1:c.1573C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513154.1:p.Leu525="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1993,
          "referenceAllele": "C",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.10:c.1876C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Leu626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1876C="
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1876C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Leu626="
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Leu626="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2155,
          "referenceAllele": "C",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000637002.1:c.1267C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490340.1:p.Leu423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.9:c.1876C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Leu626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000395227.2:c.670C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378652.2:p.Leu224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1161,
          "referenceAllele": "C",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000425614.3:c.1111C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387640.2:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000473881.2:c.*702C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486667.1:n.*702C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064096616",
      "coordinates": [
        {
          "allele": "C",
          "end": 1961,
          "referenceAllele": "C",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.2:c.1876C="
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Leu626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_005270516.2:c.1114C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005270573.1:p.Leu372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2490,
          "referenceAllele": "C",
          "start": 2489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540789.1:c.1966C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539091.1:p.Leu656="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2427,
          "referenceAllele": "C",
          "start": 2426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.1:c.1876C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Leu626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.1:c.1876C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Leu626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.3:c.1876C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Leu626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.3:c.1876C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Leu626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1956,
          "referenceAllele": "C",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XR_001736993.1:n.1956C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064096616",
      "coordinates": [
        {
          "allele": "C",
          "end": 1993,
          "referenceAllele": "C",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.3:c.1876C="
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Leu626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1876C="
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1876C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Leu626="
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Leu626="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}