Revel Score:
ENST00000425614
0.054
ENST00000347310 (MANE Select)
0.186
ENST00000431791
0.186
ENST00000416525
0.186
ENST00000371002
0.186
ENST00000395227
0.186
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97921393 (EAS)
Genomes Max Group AF
0.96327597 (EAS)
Exomes Max Group AF
0.97886265 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67219704T>C , CM000663.2:g.67219704T>C | GRCh38 |
| NC_000001.10:g.67685387T>C , CM000663.1:g.67685387T>C | GRCh37 |
| NC_000001.9:g.67457975T>C | NCBI36 |
| NG_011498.1:g.58219T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697148.1:c.805T>C (IL23R) | ENSP00000513137.1:n.805T>C | |
| ENST00000697149.1:c.768T>C (IL23R) | ENSP00000513138.1:n.768T>C | |
| ENST00000697150.1:c.929T>C (IL23R) | ENSP00000513139.1:p.Leu310Pro | |
| ENST00000697151.1:c.929T>C (IL23R) | ENSP00000513140.1:p.Leu310Pro | |
| ENST00000697152.1:c.798+12649T>C (IL23R) | ENSP00000513141.1:n.798+12649T>C | |
| ENST00000697153.1:c.768T>C (IL23R) | ENSP00000513142.1:n.768T>C | |
| ENST00000697154.1:c.929T>C (IL23R) | ENSP00000513143.1:p.Leu310Pro | |
| ENST00000697155.1:c.622T>C (IL23R) | ENSP00000513144.1:n.622T>C | |
| ENST00000697156.1:c.929T>C (IL23R) | ENSP00000513145.1:p.Leu310Pro | |
| ENST00000697157.1:c.783T>C (IL23R) | ENSP00000513146.1:n.783T>C | |
| ENST00000697158.1:c.798+12649T>C (IL23R) | ENSP00000513147.1:n.798+12649T>C | |
| ENST00000697159.1:c.622T>C (IL23R) | ENSP00000513148.1:n.622T>C | |
| ENST00000697160.1:c.929T>C (IL23R) | ENSP00000513149.1:p.Leu310Pro | |
| ENST00000697161.1:c.492-17009T>C (IL23R) | ENSP00000513150.1:n.492-17009T>C | |
| ENST00000697162.1:c.858T>C (IL23R) | ENSP00000513151.1:n.858T>C | |
| ENST00000697163.1:c.929T>C (IL23R) | ENSP00000513152.1:p.Leu310Pro | |
| ENST00000697164.1:c.929T>C (IL23R) | ENSP00000513153.1:p.Leu310Pro | |
| ENST00000697165.1:c.653-17009T>C (IL23R) | ENSP00000513154.1:n.653-17009T>C | |
| ENST00000697223.1:c.768T>C (IL23R) | ENSP00000513190.1:n.768T>C | |
| ENST00000697224.1:c.768T>C (IL23R) | ENSP00000513191.1:n.768T>C | |
| ENST00000697225.1:c.622T>C (IL23R) | ENSP00000513192.1:n.622T>C | |
| ENST00000697226.1:c.622T>C (IL23R) | ENSP00000513193.1:n.622T>C | |
| ENST00000697227.1:c.866+63T>C (IL23R) | ENSP00000513194.1:n.866+63T>C | |
| ENST00000697228.1:c.648-17009T>C (IL23R) | ENSP00000513195.1:n.648-17009T>C | |
| ENST00000697229.1:c.858T>C (IL23R) | ENSP00000513196.1:n.858T>C | |
| ENST00000697230.1:c.929T>C (IL23R) | ENSP00000513197.1:p.Leu310Pro | |
| ENST00000697231.1:c.924T>C (IL23R) | ENSP00000513198.1:n.924T>C | |
| ENST00000697232.1:c.858T>C (IL23R) | ENSP00000513199.1:n.858T>C | |
| ENST00000347310.10:c.929T>C (IL23R) MANE Select | ENSP00000321345.5:p.Leu310Pro | |
| ENST00000637002.1:c.320T>C (IL23R) | ENSP00000490340.1:p.Leu107Pro | |
| ENST00000347310.9:c.929T>C (IL23R) | ENSP00000321345.5:p.Leu310Pro | |
| ENST00000371007.6:c.-104+12142A>G (C1orf141) | ENSP00000360046.1:n.-104+12142A>G | |
| ENST00000395227.2:c.-85T>C (IL23R) | ENSP00000378652.2:n.-85T>C | |
| ENST00000425614.3:c.164T>C (IL23R) | ENSP00000387640.2:p.Leu55Pro | |
| ENST00000448166.6:c.-104+12142A>G (C1orf141) | ENSP00000415519.2:n.-104+12142A>G | |
| ENST00000473881.2:c.164T>C (IL23R) | ENSP00000486667.1:p.Leu55Pro | |
| NM_144701.2:c.929T>C (IL23R) | NP_653302.2:p.Leu310Pro | |
| XM_005270516.2:c.167T>C (IL23R) | XP_005270573.1:p.Leu56Pro | |
| XM_011540789.1:c.1019T>C (IL23R) | XP_011539091.1:p.Leu340Pro | |
| XM_011540790.1:c.929T>C (IL23R) | XP_011539092.1:p.Leu310Pro | |
| XM_011540791.1:c.929T>C (IL23R) | XP_011539093.1:p.Leu310Pro | |
| XM_011540790.3:c.929T>C (IL23R) | XP_011539092.1:p.Leu310Pro | |
| XM_011540791.3:c.929T>C (IL23R) | XP_011539093.1:p.Leu310Pro | |
| XR_001736993.1:n.1112T>C (IL23R) | ||
| NM_144701.3:c.929T>C (IL23R) MANE Select | NP_653302.2:p.Leu310Pro |