{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA900065",
  "communityStandardTitle": [
    "NM_144701.3(IL23R):c.1873T>C (p.Ser625Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3686494[alleleid]",
        "alleleId": 3686494,
        "preferredName": "NM_144701.3(IL23R):c.1873T>C (p.Ser625Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3528759",
        "RCV": [
          "RCV004929175"
        ],
        "variationId": 3528759
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-67724794-T-C",
        "id": "1-67724794-T-C",
        "variant": "1:67724794 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67724794T>C?assembly=hg19",
        "id": "chr1:g.67724794T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67259111T>C?assembly=hg38",
        "id": "chr1:g.67259111T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779703262",
        "rs": 779703262
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-67724794-T-C?dataset=gnomad_r2_1",
        "id": "1-67724794-T-C",
        "variant": "1:67724794 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-67259111-T-C?dataset=gnomad_r3",
        "id": "1-67259111-T-C",
        "variant": "1:67259111 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-67259111-T-C?dataset=gnomad_r4",
        "id": "1-67259111-T-C",
        "variant": "1:67259111 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67259111,
          "referenceAllele": "T",
          "start": 67259110
        }
      ],
      "hgvs": [
        "NC_000001.11:g.67259111T>C",
        "CM000663.2:g.67259111T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67724794,
          "referenceAllele": "T",
          "start": 67724793
        }
      ],
      "hgvs": [
        "NC_000001.10:g.67724794T>C",
        "CM000663.1:g.67724794T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67497382,
          "referenceAllele": "T",
          "start": 67497381
        }
      ],
      "hgvs": [
        "NC_000001.9:g.67497382T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97626,
          "referenceAllele": "T",
          "start": 97625
        }
      ],
      "hgvs": [
        "NG_011498.1:g.97626T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001766"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1712,
          "referenceAllele": "T",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697149.1:c.1712T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513138.1:n.1712T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1770,
          "referenceAllele": "T",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697150.1:c.1770T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513139.1:n.1770T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1703,
          "referenceAllele": "T",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697151.1:c.1703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513140.1:n.1703T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1783,
          "referenceAllele": "T",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697164.1:c.1783T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513153.1:p.Ser595Pro",
        "hgvsWellDefined": "ENSP00000513153.1:p.Ser595Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1570,
          "referenceAllele": "T",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697165.1:c.1570T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513154.1:p.Ser524Pro",
        "hgvsWellDefined": "ENSP00000513154.1:p.Ser524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1990,
          "referenceAllele": "T",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.10:c.1873T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Ser625Pro",
        "hgvsWellDefined": "ENSP00000321345.5:p.Ser625Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1873T>C"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1873T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Ser625Pro"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Ser625Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2152,
          "referenceAllele": "T",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000637002.1:c.1264T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490340.1:p.Ser422Pro",
        "hgvsWellDefined": "ENSP00000490340.1:p.Ser422Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2044,
          "referenceAllele": "T",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.9:c.1873T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Ser625Pro",
        "hgvsWellDefined": "ENSP00000321345.5:p.Ser625Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 899,
          "referenceAllele": "T",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000395227.2:c.667T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378652.2:p.Ser223Pro",
        "hgvsWellDefined": "ENSP00000378652.2:p.Ser223Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1158,
          "referenceAllele": "T",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000425614.3:c.1108T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387640.2:p.Ser370Pro",
        "hgvsWellDefined": "ENSP00000387640.2:p.Ser370Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 943,
          "referenceAllele": "T",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000473881.2:c.*699T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486667.1:n.*699T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057477526",
      "coordinates": [
        {
          "allele": "C",
          "end": 1958,
          "referenceAllele": "T",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.2:c.1873T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Ser625Pro",
        "hgvsWellDefined": "NP_653302.2:p.Ser625Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1604,
          "referenceAllele": "T",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_005270516.2:c.1111T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270573.1:p.Ser371Pro",
        "hgvsWellDefined": "XP_005270573.1:p.Ser371Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2487,
          "referenceAllele": "T",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540789.1:c.1963T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539091.1:p.Ser655Pro",
        "hgvsWellDefined": "XP_011539091.1:p.Ser655Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2424,
          "referenceAllele": "T",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.1:c.1873T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Ser625Pro",
        "hgvsWellDefined": "XP_011539092.1:p.Ser625Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1943,
          "referenceAllele": "T",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.1:c.1873T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Ser625Pro",
        "hgvsWellDefined": "XP_011539093.1:p.Ser625Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2425,
          "referenceAllele": "T",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.3:c.1873T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Ser625Pro",
        "hgvsWellDefined": "XP_011539092.1:p.Ser625Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1943,
          "referenceAllele": "T",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.3:c.1873T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Ser625Pro",
        "hgvsWellDefined": "XP_011539093.1:p.Ser625Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1953,
          "referenceAllele": "T",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XR_001736993.1:n.1953T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057477526",
      "coordinates": [
        {
          "allele": "C",
          "end": 1990,
          "referenceAllele": "T",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.3:c.1873T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Ser625Pro",
        "hgvsWellDefined": "NP_653302.2:p.Ser625Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1873T>C"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1873T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Ser625Pro"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Ser625Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}