Canonical Allele Identifier: CA340729615
Community Standard Title: NM_144701.3(IL23R):c.1783G>T (p.Val595Phe)
Gene: IL23R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67259021G>T , CM000663.2:g.67259021G>T GRCh38
NC_000001.10:g.67724704G>T , CM000663.1:g.67724704G>T GRCh37
NC_000001.9:g.67497292G>T NCBI36
NG_011498.1:g.97536G>T

Transcript Alleles

HGVS Amino-acid Change
NM_144701.3:c.1783G>T MANE Select NP_653302.2:p.Val595Phe
ENST00000347310.10:c.1783G>T MANE Select ENSP00000321345.5:p.Val595Phe
NM_144701.2:c.1783G>T NP_653302.2:p.Val595Phe
ENST00000347310.9:c.1783G>T ENSP00000321345.5:p.Val595Phe
ENST00000395227.2:c.577G>T ENSP00000378652.2:p.Val193Phe
ENST00000425614.3:c.1018G>T ENSP00000387640.2:p.Val340Phe
ENST00000473881.2:c.*609G>T ENSP00000486667.1:n.*609G>T
ENST00000637002.1:c.1174G>T ENSP00000490340.1:p.Val392Phe
ENST00000697149.1:c.1622G>T ENSP00000513138.1:n.1622G>T
ENST00000697150.1:c.1680G>T ENSP00000513139.1:n.1680G>T
ENST00000697151.1:c.1613G>T ENSP00000513140.1:n.1613G>T
ENST00000697164.1:c.1693G>T ENSP00000513153.1:p.Val565Phe
ENST00000697165.1:c.1480G>T ENSP00000513154.1:p.Val494Phe
XM_005270516.2:c.1021G>T XP_005270573.1:p.Val341Phe
XM_011540789.1:c.1873G>T XP_011539091.1:p.Val625Phe
XM_011540790.1:c.1783G>T XP_011539092.1:p.Val595Phe
XM_011540790.3:c.1783G>T XP_011539092.1:p.Val595Phe
XM_011540791.1:c.1783G>T XP_011539093.1:p.Val595Phe
XM_011540791.3:c.1783G>T XP_011539093.1:p.Val595Phe
XR_001736993.1:n.1863G>T