{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340729626",
  "communityStandardTitle": [
    "NM_144701.3(IL23R):c.1787C>A (p.Ser596Tyr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67724708C>A?assembly=hg19",
        "id": "chr1:g.67724708C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67259025C>A?assembly=hg38",
        "id": "chr1:g.67259025C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 67259025,
          "referenceAllele": "C",
          "start": 67259024
        }
      ],
      "hgvs": [
        "NC_000001.11:g.67259025C>A",
        "CM000663.2:g.67259025C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 67724708,
          "referenceAllele": "C",
          "start": 67724707
        }
      ],
      "hgvs": [
        "NC_000001.10:g.67724708C>A",
        "CM000663.1:g.67724708C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 67497296,
          "referenceAllele": "C",
          "start": 67497295
        }
      ],
      "hgvs": [
        "NC_000001.9:g.67497296C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97540,
          "referenceAllele": "C",
          "start": 97539
        }
      ],
      "hgvs": [
        "NG_011498.1:g.97540C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001766"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1626,
          "referenceAllele": "C",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697149.1:c.1626C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513138.1:n.1626C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697150.1:c.1684C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513139.1:n.1684C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697151.1:c.1617C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513140.1:n.1617C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1697,
          "referenceAllele": "C",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697164.1:c.1697C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513153.1:p.Ser566Tyr",
        "hgvsWellDefined": "ENSP00000513153.1:p.Ser566Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697165.1:c.1484C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513154.1:p.Ser495Tyr",
        "hgvsWellDefined": "ENSP00000513154.1:p.Ser495Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1904,
          "referenceAllele": "C",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.10:c.1787C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Ser596Tyr",
        "hgvsWellDefined": "ENSP00000321345.5:p.Ser596Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1787C>A"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1787C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Ser596Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Ser596Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000637002.1:c.1178C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490340.1:p.Ser393Tyr",
        "hgvsWellDefined": "ENSP00000490340.1:p.Ser393Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1958,
          "referenceAllele": "C",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.9:c.1787C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Ser596Tyr",
        "hgvsWellDefined": "ENSP00000321345.5:p.Ser596Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000395227.2:c.581C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378652.2:p.Ser194Tyr",
        "hgvsWellDefined": "ENSP00000378652.2:p.Ser194Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000425614.3:c.1022C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387640.2:p.Ser341Tyr",
        "hgvsWellDefined": "ENSP00000387640.2:p.Ser341Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "referenceAllele": "C",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000473881.2:c.*613C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486667.1:n.*613C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "referenceAllele": "C",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.2:c.1787C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Ser596Tyr",
        "hgvsWellDefined": "NP_653302.2:p.Ser596Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_005270516.2:c.1025C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270573.1:p.Ser342Tyr",
        "hgvsWellDefined": "XP_005270573.1:p.Ser342Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2401,
          "referenceAllele": "C",
          "start": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540789.1:c.1877C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539091.1:p.Ser626Tyr",
        "hgvsWellDefined": "XP_011539091.1:p.Ser626Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2338,
          "referenceAllele": "C",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.1:c.1787C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Ser596Tyr",
        "hgvsWellDefined": "XP_011539092.1:p.Ser596Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1857,
          "referenceAllele": "C",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.1:c.1787C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Ser596Tyr",
        "hgvsWellDefined": "XP_011539093.1:p.Ser596Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2339,
          "referenceAllele": "C",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.3:c.1787C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Ser596Tyr",
        "hgvsWellDefined": "XP_011539092.1:p.Ser596Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1857,
          "referenceAllele": "C",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.3:c.1787C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Ser596Tyr",
        "hgvsWellDefined": "XP_011539093.1:p.Ser596Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XR_001736993.1:n.1867C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1904,
          "referenceAllele": "C",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.3:c.1787C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Ser596Tyr",
        "hgvsWellDefined": "NP_653302.2:p.Ser596Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1787C>A"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1787C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Ser596Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Ser596Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}