{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA418438771",
  "communityStandardTitle": [
    "NM_144701.3(IL23R):c.1809G>A (p.Glu603=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67724730G>A?assembly=hg19",
        "id": "chr1:g.67724730G>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 67259047,
          "referenceAllele": "G",
          "start": 67259046
        }
      ],
      "hgvs": [
        "NC_000001.11:g.67259047G>A",
        "CM000663.2:g.67259047G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 67724730,
          "referenceAllele": "G",
          "start": 67724729
        }
      ],
      "hgvs": [
        "NC_000001.10:g.67724730G>A",
        "CM000663.1:g.67724730G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 67497318,
          "referenceAllele": "G",
          "start": 67497317
        }
      ],
      "hgvs": [
        "NC_000001.9:g.67497318G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97562,
          "referenceAllele": "G",
          "start": 97561
        }
      ],
      "hgvs": [
        "NG_011498.1:g.97562G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001766"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1648,
          "referenceAllele": "G",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697149.1:c.1648G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513138.1:n.1648G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1706,
          "referenceAllele": "G",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697150.1:c.1706G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513139.1:n.1706G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "G",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697151.1:c.1639G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513140.1:n.1639G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1719,
          "referenceAllele": "G",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697164.1:c.1719G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513153.1:p.Glu573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1506,
          "referenceAllele": "G",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697165.1:c.1506G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513154.1:p.Glu502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1926,
          "referenceAllele": "G",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.10:c.1809G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Glu603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1809G>A"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1809G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Glu603="
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Glu603="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2088,
          "referenceAllele": "G",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000637002.1:c.1200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490340.1:p.Glu400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.9:c.1809G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Glu603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "G",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000395227.2:c.603G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378652.2:p.Glu201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "referenceAllele": "G",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000425614.3:c.1044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387640.2:p.Glu348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000473881.2:c.*635G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486667.1:n.*635G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066244187",
      "coordinates": [
        {
          "allele": "A",
          "end": 1894,
          "referenceAllele": "G",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.2:c.1809G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Glu603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1540,
          "referenceAllele": "G",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_005270516.2:c.1047G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270573.1:p.Glu349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2423,
          "referenceAllele": "G",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540789.1:c.1899G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539091.1:p.Glu633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2360,
          "referenceAllele": "G",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.1:c.1809G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Glu603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.1:c.1809G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Glu603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2361,
          "referenceAllele": "G",
          "start": 2360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.3:c.1809G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Glu603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.3:c.1809G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Glu603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1889,
          "referenceAllele": "G",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XR_001736993.1:n.1889G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066244187",
      "coordinates": [
        {
          "allele": "A",
          "end": 1926,
          "referenceAllele": "G",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.3:c.1809G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Glu603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1809G>A"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1809G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Glu603="
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Glu603="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}