Canonical Allele Identifier: CA340729594
Community Standard Title: NM_144701.3(IL23R):c.1778A>T (p.Glu593Val)
Gene: IL23R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67259016A>T , CM000663.2:g.67259016A>T GRCh38
NC_000001.10:g.67724699A>T , CM000663.1:g.67724699A>T GRCh37
NC_000001.9:g.67497287A>T NCBI36
NG_011498.1:g.97531A>T

Transcript Alleles

HGVS Amino-acid Change
NM_144701.3:c.1778A>T MANE Select NP_653302.2:p.Glu593Val
ENST00000347310.10:c.1778A>T MANE Select ENSP00000321345.5:p.Glu593Val
NM_144701.2:c.1778A>T NP_653302.2:p.Glu593Val
ENST00000347310.9:c.1778A>T ENSP00000321345.5:p.Glu593Val
ENST00000395227.2:c.572A>T ENSP00000378652.2:p.Glu191Val
ENST00000425614.3:c.1013A>T ENSP00000387640.2:p.Glu338Val
ENST00000473881.2:c.*604A>T ENSP00000486667.1:n.*604A>T
ENST00000637002.1:c.1169A>T ENSP00000490340.1:p.Glu390Val
ENST00000697149.1:c.1617A>T ENSP00000513138.1:n.1617A>T
ENST00000697150.1:c.1675A>T ENSP00000513139.1:n.1675A>T
ENST00000697151.1:c.1608A>T ENSP00000513140.1:n.1608A>T
ENST00000697164.1:c.1688A>T ENSP00000513153.1:p.Glu563Val
ENST00000697165.1:c.1475A>T ENSP00000513154.1:p.Glu492Val
XM_005270516.2:c.1016A>T XP_005270573.1:p.Glu339Val
XM_011540789.1:c.1868A>T XP_011539091.1:p.Glu623Val
XM_011540790.1:c.1778A>T XP_011539092.1:p.Glu593Val
XM_011540790.3:c.1778A>T XP_011539092.1:p.Glu593Val
XM_011540791.1:c.1778A>T XP_011539093.1:p.Glu593Val
XM_011540791.3:c.1778A>T XP_011539093.1:p.Glu593Val
XR_001736993.1:n.1858A>T