Canonical Allele Identifier: CA418438648
Gene: IL23R HGNC NCBI

Linked Data

dbSNP Id: rs1292182347
gnomAD v2: 1-67724436-T-C
gnomAD v4: 1-67258753-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67258753T>C , CM000663.2:g.67258753T>C GRCh38
NC_000001.10:g.67724436T>C , CM000663.1:g.67724436T>C GRCh37
NC_000001.9:g.67497024T>C NCBI36
NG_011498.1:g.97268T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697149.1:c.1354T>C ENSP00000513138.1:n.1354T>C
ENST00000697150.1:c.1412T>C ENSP00000513139.1:n.1412T>C
ENST00000697151.1:c.1345T>C ENSP00000513140.1:n.1345T>C
ENST00000697164.1:c.1425T>C ENSP00000513153.1:p.Thr475=
ENST00000697165.1:c.1212T>C ENSP00000513154.1:p.Thr404=
ENST00000347310.10:c.1515T>C MANE Select ENSP00000321345.5:p.Thr505=
ENST00000637002.1:c.906T>C ENSP00000490340.1:p.Thr302=
ENST00000347310.9:c.1515T>C ENSP00000321345.5:p.Thr505=
ENST00000395227.2:c.309T>C ENSP00000378652.2:p.Thr103=
ENST00000425614.3:c.750T>C ENSP00000387640.2:p.Thr250=
ENST00000473881.2:c.*341T>C ENSP00000486667.1:n.*341T>C
NM_144701.2:c.1515T>C NP_653302.2:p.Thr505=
XM_005270516.2:c.753T>C XP_005270573.1:p.Thr251=
XM_011540789.1:c.1605T>C XP_011539091.1:p.Thr535=
XM_011540790.1:c.1515T>C XP_011539092.1:p.Thr505=
XM_011540791.1:c.1515T>C XP_011539093.1:p.Thr505=
XM_011540790.3:c.1515T>C XP_011539092.1:p.Thr505=
XM_011540791.3:c.1515T>C XP_011539093.1:p.Thr505=
XR_001736993.1:n.1595T>C
NM_144701.3:c.1515T>C MANE Select NP_653302.2:p.Thr505=