{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340730168",
  "communityStandardTitle": [
    "NM_144701.3(IL23R):c.1882G>T (p.Glu628Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67724803G>T?assembly=hg19",
        "id": "chr1:g.67724803G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.67259120G>T?assembly=hg38",
        "id": "chr1:g.67259120G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 67259120,
          "referenceAllele": "G",
          "start": 67259119
        }
      ],
      "hgvs": [
        "NC_000001.11:g.67259120G>T",
        "CM000663.2:g.67259120G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 67724803,
          "referenceAllele": "G",
          "start": 67724802
        }
      ],
      "hgvs": [
        "NC_000001.10:g.67724803G>T",
        "CM000663.1:g.67724803G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 67497391,
          "referenceAllele": "G",
          "start": 67497390
        }
      ],
      "hgvs": [
        "NC_000001.9:g.67497391G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97635,
          "referenceAllele": "G",
          "start": 97634
        }
      ],
      "hgvs": [
        "NG_011498.1:g.97635G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001766"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1721,
          "referenceAllele": "G",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697149.1:c.1721G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513138.1:n.1721G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1779,
          "referenceAllele": "G",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697150.1:c.1779G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513139.1:n.1779G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697151.1:c.1712G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513140.1:n.1712G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1792,
          "referenceAllele": "G",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697164.1:c.1792G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513153.1:p.Glu598Ter",
        "hgvsWellDefined": "ENSP00000513153.1:p.Glu598_Lys599delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "G",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000697165.1:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513154.1:p.Glu527Ter",
        "hgvsWellDefined": "ENSP00000513154.1:p.Glu527_Lys528delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1999,
          "referenceAllele": "G",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.10:c.1882G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Glu628Ter",
        "hgvsWellDefined": "ENSP00000321345.5:p.Glu628_Lys629delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1882G>T"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1882G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Glu628Ter"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Glu628Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2161,
          "referenceAllele": "G",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000637002.1:c.1273G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490340.1:p.Glu425Ter",
        "hgvsWellDefined": "ENSP00000490340.1:p.Glu425_Lys426delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2053,
          "referenceAllele": "G",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000347310.9:c.1882G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321345.5:p.Glu628Ter",
        "hgvsWellDefined": "ENSP00000321345.5:p.Glu628_Lys629delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "G",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000395227.2:c.676G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378652.2:p.Glu226Ter",
        "hgvsWellDefined": "ENSP00000378652.2:p.Glu226_Lys227delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000425614.3:c.1117G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387640.2:p.Glu373Ter",
        "hgvsWellDefined": "ENSP00000387640.2:p.Glu373_Lys374delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 952,
          "referenceAllele": "G",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "ENST00000473881.2:c.*708G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486667.1:n.*708G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1967,
          "referenceAllele": "G",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.2:c.1882G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Glu628Ter",
        "hgvsWellDefined": "NP_653302.2:p.Glu628_Lys629delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "G",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_005270516.2:c.1120G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270573.1:p.Glu374Ter",
        "hgvsWellDefined": "XP_005270573.1:p.Glu374_Lys375delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2496,
          "referenceAllele": "G",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540789.1:c.1972G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539091.1:p.Glu658Ter",
        "hgvsWellDefined": "XP_011539091.1:p.Glu658_Lys659delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2433,
          "referenceAllele": "G",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.1:c.1882G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Glu628Ter",
        "hgvsWellDefined": "XP_011539092.1:p.Glu628_Lys629delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1952,
          "referenceAllele": "G",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.1:c.1882G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Glu628Ter",
        "hgvsWellDefined": "XP_011539093.1:p.Glu628_Lys629delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540790.3:c.1882G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539092.1:p.Glu628Ter",
        "hgvsWellDefined": "XP_011539092.1:p.Glu628_Lys629delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1952,
          "referenceAllele": "G",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XM_011540791.3:c.1882G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539093.1:p.Glu628Ter",
        "hgvsWellDefined": "XP_011539093.1:p.Glu628_Lys629delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1962,
          "referenceAllele": "G",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "XR_001736993.1:n.1962G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1999,
          "referenceAllele": "G",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019100",
      "geneNCBI_id": 149233,
      "geneSymbol": "IL23R",
      "hgvs": [
        "NM_144701.3:c.1882G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653302.2:p.Glu628Ter",
        "hgvsWellDefined": "NP_653302.2:p.Glu628_Lys629delinsLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347310.10:c.1882G>T"
          },
          "RefSeq": {
            "hgvs": "NM_144701.3:c.1882G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321345.5:p.Glu628Ter"
          },
          "RefSeq": {
            "hgvs": "NP_653302.2:p.Glu628Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}