{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340730156",
  "communityStandardTitle": [
    "NM_144701.3(IL23R):c.1881G>C (p.Leu627Phe)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67724802G>C?assembly=hg19",
        "id": "chr1:g.67724802G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67259119G>C?assembly=hg38",
        "id": "chr1:g.67259119G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67259119,
          "referenceAllele": "G",
          "start": 67259118
        }
      ],
      "hgvs": [
        "NC_000001.11:g.67259119G>C",
        "CM000663.2:g.67259119G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67724802,
          "referenceAllele": "G",
          "start": 67724801
        }
      ],
      "hgvs": [
        "NC_000001.10:g.67724802G>C",
        "CM000663.1:g.67724802G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 67497390,
          "referenceAllele": "G",
          "start": 67497389
        }
      ],
      "hgvs": [
        "NC_000001.9:g.67497390G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97634,
          "referenceAllele": "G",
          "start": 97633
        }
      ],
      "hgvs": [
        "NG_011498.1:g.97634G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001766"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1720,
          "referenceAllele": "G",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697149.1:c.1720G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513138.1:n.1720G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1778,
          "referenceAllele": "G",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697150.1:c.1778G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513139.1:n.1778G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1711,
          "referenceAllele": "G",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697151.1:c.1711G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513140.1:n.1711G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1791,
          "referenceAllele": "G",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697164.1:c.1791G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513153.1:p.Leu597Phe",
        "hgvsWellDefined": "ENSP00000513153.1:p.Leu597Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1578,
          "referenceAllele": "G",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697165.1:c.1578G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513154.1:p.Leu526Phe",
        "hgvsWellDefined": "ENSP00000513154.1:p.Leu526Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1998,
          "referenceAllele": "G",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.10:c.1881G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Leu627Phe",
        "hgvsWellDefined": "ENSP00000321345.5:p.Leu627Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1881G>C"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1881G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Leu627Phe"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Leu627Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2160,
          "referenceAllele": "G",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000637002.1:c.1272G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490340.1:p.Leu424Phe",
        "hgvsWellDefined": "ENSP00000490340.1:p.Leu424Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2052,
          "referenceAllele": "G",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.9:c.1881G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Leu627Phe",
        "hgvsWellDefined": "ENSP00000321345.5:p.Leu627Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000395227.2:c.675G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378652.2:p.Leu225Phe",
        "hgvsWellDefined": "ENSP00000378652.2:p.Leu225Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "G",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000425614.3:c.1116G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387640.2:p.Leu372Phe",
        "hgvsWellDefined": "ENSP00000387640.2:p.Leu372Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "G",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000473881.2:c.*707G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486667.1:n.*707G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3065865929",
      "coordinates": [
        {
          "allele": "C",
          "end": 1966,
          "referenceAllele": "G",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.2:c.1881G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Leu627Phe",
        "hgvsWellDefined": "NP_653302.2:p.Leu627Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1612,
          "referenceAllele": "G",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_005270516.2:c.1119G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270573.1:p.Leu373Phe",
        "hgvsWellDefined": "XP_005270573.1:p.Leu373Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2495,
          "referenceAllele": "G",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540789.1:c.1971G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539091.1:p.Leu657Phe",
        "hgvsWellDefined": "XP_011539091.1:p.Leu657Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2432,
          "referenceAllele": "G",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.1:c.1881G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Leu627Phe",
        "hgvsWellDefined": "XP_011539092.1:p.Leu627Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1951,
          "referenceAllele": "G",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.1:c.1881G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Leu627Phe",
        "hgvsWellDefined": "XP_011539093.1:p.Leu627Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2433,
          "referenceAllele": "G",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.3:c.1881G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Leu627Phe",
        "hgvsWellDefined": "XP_011539092.1:p.Leu627Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1951,
          "referenceAllele": "G",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.3:c.1881G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Leu627Phe",
        "hgvsWellDefined": "XP_011539093.1:p.Leu627Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1961,
          "referenceAllele": "G",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XR_001736993.1:n.1961G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3065865929",
      "coordinates": [
        {
          "allele": "C",
          "end": 1998,
          "referenceAllele": "G",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.3:c.1881G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Leu627Phe",
        "hgvsWellDefined": "NP_653302.2:p.Leu627Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1881G>C"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1881G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Leu627Phe"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Leu627Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}