Canonical Allele Identifier: CA900054
Community Standard Title: NM_144701.3(IL23R):c.1780T>A (p.Phe594Ile)
Gene: IL23R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67259018T>A , CM000663.2:g.67259018T>A GRCh38
NC_000001.10:g.67724701T>A , CM000663.1:g.67724701T>A GRCh37
NC_000001.9:g.67497289T>A NCBI36
NG_011498.1:g.97533T>A

Transcript Alleles

HGVS Amino-acid Change
NM_144701.3:c.1780T>A MANE Select NP_653302.2:p.Phe594Ile
ENST00000347310.10:c.1780T>A MANE Select ENSP00000321345.5:p.Phe594Ile
NM_144701.2:c.1780T>A NP_653302.2:p.Phe594Ile
ENST00000347310.9:c.1780T>A ENSP00000321345.5:p.Phe594Ile
ENST00000395227.2:c.574T>A ENSP00000378652.2:p.Phe192Ile
ENST00000425614.3:c.1015T>A ENSP00000387640.2:p.Phe339Ile
ENST00000473881.2:c.*606T>A ENSP00000486667.1:n.*606T>A
ENST00000637002.1:c.1171T>A ENSP00000490340.1:p.Phe391Ile
ENST00000697149.1:c.1619T>A ENSP00000513138.1:n.1619T>A
ENST00000697150.1:c.1677T>A ENSP00000513139.1:n.1677T>A
ENST00000697151.1:c.1610T>A ENSP00000513140.1:n.1610T>A
ENST00000697164.1:c.1690T>A ENSP00000513153.1:p.Phe564Ile
ENST00000697165.1:c.1477T>A ENSP00000513154.1:p.Phe493Ile
XM_005270516.2:c.1018T>A XP_005270573.1:p.Phe340Ile
XM_011540789.1:c.1870T>A XP_011539091.1:p.Phe624Ile
XM_011540790.1:c.1780T>A XP_011539092.1:p.Phe594Ile
XM_011540790.3:c.1780T>A XP_011539092.1:p.Phe594Ile
XM_011540791.1:c.1780T>A XP_011539093.1:p.Phe594Ile
XM_011540791.3:c.1780T>A XP_011539093.1:p.Phe594Ile
XR_001736993.1:n.1860T>A