{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340729643",
  "communityStandardTitle": [
    "NM_144701.3(IL23R):c.1792T>A (p.Leu598Met)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67724713T>A?assembly=hg19",
        "id": "chr1:g.67724713T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67259030T>A?assembly=hg38",
        "id": "chr1:g.67259030T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 67259030,
          "referenceAllele": "T",
          "start": 67259029
        }
      ],
      "hgvs": [
        "NC_000001.11:g.67259030T>A",
        "CM000663.2:g.67259030T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 67724713,
          "referenceAllele": "T",
          "start": 67724712
        }
      ],
      "hgvs": [
        "NC_000001.10:g.67724713T>A",
        "CM000663.1:g.67724713T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 67497301,
          "referenceAllele": "T",
          "start": 67497300
        }
      ],
      "hgvs": [
        "NC_000001.9:g.67497301T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97545,
          "referenceAllele": "T",
          "start": 97544
        }
      ],
      "hgvs": [
        "NG_011498.1:g.97545T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001766"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1631,
          "referenceAllele": "T",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697149.1:c.1631T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513138.1:n.1631T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1689,
          "referenceAllele": "T",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697150.1:c.1689T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513139.1:n.1689T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1622,
          "referenceAllele": "T",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697151.1:c.1622T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513140.1:n.1622T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "referenceAllele": "T",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697164.1:c.1702T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513153.1:p.Leu568Met",
        "hgvsWellDefined": "ENSP00000513153.1:p.Leu568Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1489,
          "referenceAllele": "T",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697165.1:c.1489T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513154.1:p.Leu497Met",
        "hgvsWellDefined": "ENSP00000513154.1:p.Leu497Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1909,
          "referenceAllele": "T",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.10:c.1792T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Leu598Met",
        "hgvsWellDefined": "ENSP00000321345.5:p.Leu598Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1792T>A"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1792T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Leu598Met"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Leu598Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2071,
          "referenceAllele": "T",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000637002.1:c.1183T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490340.1:p.Leu395Met",
        "hgvsWellDefined": "ENSP00000490340.1:p.Leu395Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1963,
          "referenceAllele": "T",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.9:c.1792T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Leu598Met",
        "hgvsWellDefined": "ENSP00000321345.5:p.Leu598Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 818,
          "referenceAllele": "T",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000395227.2:c.586T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378652.2:p.Leu196Met",
        "hgvsWellDefined": "ENSP00000378652.2:p.Leu196Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "T",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000425614.3:c.1027T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387640.2:p.Leu343Met",
        "hgvsWellDefined": "ENSP00000387640.2:p.Leu343Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "T",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000473881.2:c.*618T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486667.1:n.*618T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1877,
          "referenceAllele": "T",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.2:c.1792T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Leu598Met",
        "hgvsWellDefined": "NP_653302.2:p.Leu598Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1523,
          "referenceAllele": "T",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_005270516.2:c.1030T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270573.1:p.Leu344Met",
        "hgvsWellDefined": "XP_005270573.1:p.Leu344Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2406,
          "referenceAllele": "T",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540789.1:c.1882T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539091.1:p.Leu628Met",
        "hgvsWellDefined": "XP_011539091.1:p.Leu628Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2343,
          "referenceAllele": "T",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.1:c.1792T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Leu598Met",
        "hgvsWellDefined": "XP_011539092.1:p.Leu598Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1862,
          "referenceAllele": "T",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.1:c.1792T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Leu598Met",
        "hgvsWellDefined": "XP_011539093.1:p.Leu598Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2344,
          "referenceAllele": "T",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.3:c.1792T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Leu598Met",
        "hgvsWellDefined": "XP_011539092.1:p.Leu598Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1862,
          "referenceAllele": "T",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.3:c.1792T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Leu598Met",
        "hgvsWellDefined": "XP_011539093.1:p.Leu598Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "referenceAllele": "T",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XR_001736993.1:n.1872T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1909,
          "referenceAllele": "T",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.3:c.1792T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Leu598Met",
        "hgvsWellDefined": "NP_653302.2:p.Leu598Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1792T>A"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1792T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Leu598Met"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Leu598Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}