Canonical Allele Identifier: CA10408496
Community Standard Title: NM_001029896.2(WDR45):c.524C>T (p.Ala175Val)
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075746G>A , CM000685.2:g.49075746G>A GRCh38
NC_000023.10:g.48933405G>A , CM000685.1:g.48933405G>A GRCh37
NC_000023.9:g.48820349G>A NCBI36
NG_033004.1:g.29655C>T
NG_033004.2:g.30425C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.524C>T MANE Select NP_001025067.1:p.Ala175Val
ENST00000376372.9:c.524C>T MANE Select ENSP00000365551.3:p.Ala175Val
NM_001029896.1:c.524C>T NP_001025067.1:p.Ala175Val
NM_007075.3:c.527C>T NP_009006.2:p.Ala176Val
NM_007075.4:c.527C>T NP_009006.2:p.Ala176Val
ENST00000322995.13:c.557C>T ENSP00000365543.5:p.Ala186Val
ENST00000356463.7:c.527C>T ENSP00000348848.3:p.Ala176Val
ENST00000367375.8:c.386-83C>T
ENST00000376358.4:c.218C>T ENSP00000365536.3:p.Ala73Val
ENST00000376368.7:c.527C>T ENSP00000365546.2:p.Ala176Val
ENST00000376372.8:c.524C>T ENSP00000365551.3:p.Ala175Val
ENST00000396681.9:c.419C>T ENSP00000379913.5:p.Ala140Val
ENST00000419567.7:c.548C>T ENSP00000393640.3:p.Ala183Val
ENST00000423215.3:c.578C>T ENSP00000397657.3:p.Ala193Val
ENST00000433252.7:n.98C>T
ENST00000465806.6:n.1681C>T
ENST00000471338.6:c.524C>T ENSP00000418466.2:p.Ala175Val
ENST00000472654.1:n.514C>T
ENST00000473974.5:c.524C>T ENSP00000417211.1:p.Ala175Val
ENST00000474053.6:c.599C>T ENSP00000420728.1:p.Ala200Val
ENST00000475880.6:c.422C>T ENSP00000418919.2:p.Ala141Val
ENST00000475977.2:c.20C>T ENSP00000417754.2:p.Ala7Val
ENST00000480412.2:n.129C>T
ENST00000485908.6:c.419C>T ENSP00000419897.1:p.Ala140Val
ENST00000634522.1:c.*175C>T ENSP00000489330.1:n.*175C>T
ENST00000634559.1:c.323C>T ENSP00000488986.1:p.Ala108Val
ENST00000634736.1:c.218C>T ENSP00000489561.1:p.Ala73Val
ENST00000634838.1:c.524C>T ENSP00000489268.1:p.Ala175Val
ENST00000634852.1:n.221C>T
ENST00000634944.1:c.524C>T ENSP00000488972.1:p.Ala175Val
ENST00000635003.1:c.323C>T ENSP00000489080.1:p.Ala108Val
ENST00000635344.1:c.*175C>T ENSP00000489553.1:n.*175C>T
ENST00000635666.1:c.452C>T ENSP00000489128.1:p.Ala151Val