{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340729596",
  "communityStandardTitle": [
    "NM_144701.3(IL23R):c.1779A>T (p.Glu593Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67724700A>T?assembly=hg19",
        "id": "chr1:g.67724700A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67259017A>T?assembly=hg38",
        "id": "chr1:g.67259017A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1233208238",
        "rs": 1233208238
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-67259017-A-T?dataset=gnomad_r3",
        "id": "1-67259017-A-T",
        "variant": "1:67259017 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-67259017-A-T?dataset=gnomad_r4",
        "id": "1-67259017-A-T",
        "variant": "1:67259017 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 67259017,
          "referenceAllele": "A",
          "start": 67259016
        }
      ],
      "hgvs": [
        "NC_000001.11:g.67259017A>T",
        "CM000663.2:g.67259017A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 67724700,
          "referenceAllele": "A",
          "start": 67724699
        }
      ],
      "hgvs": [
        "NC_000001.10:g.67724700A>T",
        "CM000663.1:g.67724700A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 67497288,
          "referenceAllele": "A",
          "start": 67497287
        }
      ],
      "hgvs": [
        "NC_000001.9:g.67497288A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97532,
          "referenceAllele": "A",
          "start": 97531
        }
      ],
      "hgvs": [
        "NG_011498.1:g.97532A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001766"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1618,
          "referenceAllele": "A",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697149.1:c.1618A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513138.1:n.1618A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "referenceAllele": "A",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697150.1:c.1676A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513139.1:n.1676A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "A",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697151.1:c.1609A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513140.1:n.1609A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "referenceAllele": "A",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697164.1:c.1689A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513153.1:p.Glu563Asp",
        "hgvsWellDefined": "ENSP00000513153.1:p.Glu563Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "referenceAllele": "A",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697165.1:c.1476A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513154.1:p.Glu492Asp",
        "hgvsWellDefined": "ENSP00000513154.1:p.Glu492Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1896,
          "referenceAllele": "A",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.10:c.1779A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Glu593Asp",
        "hgvsWellDefined": "ENSP00000321345.5:p.Glu593Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1779A>T"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1779A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Glu593Asp"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Glu593Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2058,
          "referenceAllele": "A",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000637002.1:c.1170A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490340.1:p.Glu390Asp",
        "hgvsWellDefined": "ENSP00000490340.1:p.Glu390Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1950,
          "referenceAllele": "A",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.9:c.1779A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Glu593Asp",
        "hgvsWellDefined": "ENSP00000321345.5:p.Glu593Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 805,
          "referenceAllele": "A",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000395227.2:c.573A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378652.2:p.Glu191Asp",
        "hgvsWellDefined": "ENSP00000378652.2:p.Glu191Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "A",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000425614.3:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387640.2:p.Glu338Asp",
        "hgvsWellDefined": "ENSP00000387640.2:p.Glu338Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000473881.2:c.*605A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486667.1:n.*605A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3065071423",
      "coordinates": [
        {
          "allele": "T",
          "end": 1864,
          "referenceAllele": "A",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.2:c.1779A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Glu593Asp",
        "hgvsWellDefined": "NP_653302.2:p.Glu593Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "A",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_005270516.2:c.1017A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270573.1:p.Glu339Asp",
        "hgvsWellDefined": "XP_005270573.1:p.Glu339Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2393,
          "referenceAllele": "A",
          "start": 2392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540789.1:c.1869A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539091.1:p.Glu623Asp",
        "hgvsWellDefined": "XP_011539091.1:p.Glu623Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2330,
          "referenceAllele": "A",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.1:c.1779A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Glu593Asp",
        "hgvsWellDefined": "XP_011539092.1:p.Glu593Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "A",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.1:c.1779A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Glu593Asp",
        "hgvsWellDefined": "XP_011539093.1:p.Glu593Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2331,
          "referenceAllele": "A",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.3:c.1779A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Glu593Asp",
        "hgvsWellDefined": "XP_011539092.1:p.Glu593Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "A",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.3:c.1779A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Glu593Asp",
        "hgvsWellDefined": "XP_011539093.1:p.Glu593Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1859,
          "referenceAllele": "A",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XR_001736993.1:n.1859A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3065071423",
      "coordinates": [
        {
          "allele": "T",
          "end": 1896,
          "referenceAllele": "A",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.3:c.1779A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Glu593Asp",
        "hgvsWellDefined": "NP_653302.2:p.Glu593Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1779A>T"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1779A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Glu593Asp"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Glu593Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}