Canonical Allele Identifier: CA10408506
Community Standard Title: NM_001029896.2(WDR45):c.507G>A (p.Leu169=)
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075875C>T , CM000685.2:g.49075875C>T GRCh38
NC_000023.10:g.48933534C>T , CM000685.1:g.48933534C>T GRCh37
NC_000023.9:g.48820478C>T NCBI36
NG_033004.1:g.29526G>A
NG_033004.2:g.30296G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.507G>A MANE Select NP_001025067.1:p.Leu169=
ENST00000376372.9:c.507G>A MANE Select ENSP00000365551.3:p.Leu169=
NM_001029896.1:c.507G>A NP_001025067.1:p.Leu169=
NM_007075.3:c.510G>A NP_009006.2:p.Leu170=
NM_007075.4:c.510G>A NP_009006.2:p.Leu170=
ENST00000322995.13:c.540G>A ENSP00000365543.5:p.Leu180=
ENST00000356463.7:c.510G>A ENSP00000348848.3:p.Leu170=
ENST00000367375.8:c.376G>A
ENST00000376358.4:c.201G>A ENSP00000365536.3:p.Leu67=
ENST00000376368.7:c.510G>A ENSP00000365546.2:p.Leu170=
ENST00000376372.8:c.507G>A ENSP00000365551.3:p.Leu169=
ENST00000396681.9:c.402G>A ENSP00000379913.5:p.Leu134=
ENST00000419567.7:c.531G>A ENSP00000393640.3:p.Leu177=
ENST00000423215.3:c.561G>A ENSP00000397657.3:p.Leu187=
ENST00000433252.7:n.81G>A
ENST00000465806.6:n.1664G>A
ENST00000471338.6:c.507G>A ENSP00000418466.2:p.Leu169=
ENST00000472654.1:n.497G>A
ENST00000473974.5:c.507G>A ENSP00000417211.1:p.Leu169=
ENST00000474053.6:c.582G>A ENSP00000420728.1:p.Leu194=
ENST00000475880.6:c.405G>A ENSP00000418919.2:p.Leu135=
ENST00000475977.2:c.3G>A ENSP00000417754.2:p.Leu1=
ENST00000485908.6:c.402G>A ENSP00000419897.1:p.Leu134=
ENST00000634522.1:c.*158G>A ENSP00000489330.1:n.*158G>A
ENST00000634559.1:c.306G>A ENSP00000488986.1:p.Leu102=
ENST00000634736.1:c.201G>A ENSP00000489561.1:p.Leu67=
ENST00000634838.1:c.507G>A ENSP00000489268.1:p.Leu169=
ENST00000634852.1:n.204G>A
ENST00000634944.1:c.507G>A ENSP00000488972.1:p.Leu169=
ENST00000635003.1:c.306G>A ENSP00000489080.1:p.Leu102=
ENST00000635344.1:c.*158G>A ENSP00000489553.1:n.*158G>A
ENST00000635666.1:c.435G>A ENSP00000489128.1:p.Leu145=