Canonical Allele Identifier: CA412941290

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49074850C>A , CM000685.2:g.49074850C>A	GRCh38
NC_000023.10:g.48932509C>A , CM000685.1:g.48932509C>A	GRCh37
NC_000023.9:g.48819453C>A	NCBI36
NG_033004.1:g.30551G>T
NG_033004.2:g.31321G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.1036G>T MANE Select	NP_001025067.1:p.Glu346Ter
ENST00000376372.9:c.1036G>T MANE Select	ENSP00000365551.3:p.Glu346Ter
NM_001029896.1:c.1036G>T	NP_001025067.1:p.Glu346Ter
NM_007075.3:c.1039G>T	NP_009006.2:p.Glu347Ter
NM_007075.4:c.1039G>T	NP_009006.2:p.Glu347Ter
ENST00000322995.13:c.1069G>T	ENSP00000365543.5:p.Glu357Ter
ENST00000356463.7:c.1039G>T	ENSP00000348848.3:p.Glu347Ter
ENST00000367375.8:c.815G>T
ENST00000376358.4:c.521+514G>T	ENSP00000365536.3:n.521+514G>T
ENST00000376368.7:c.1039G>T	ENSP00000365546.2:p.Glu347Ter
ENST00000376372.8:c.1036G>T	ENSP00000365551.3:p.Glu346Ter
ENST00000396681.9:c.919G>T	ENSP00000379913.5:p.Glu307Ter
ENST00000433252.7:n.915G>T
ENST00000465806.6:n.2193G>T
ENST00000473974.5:c.*17G>T	ENSP00000417211.1:n.*17G>T
ENST00000475977.2:c.386G>T	ENSP00000417754.2:n.386G>T
ENST00000485908.6:c.931G>T	ENSP00000419897.1:p.Glu311Ter
ENST00000486337.6:c.212G>T
ENST00000634559.1:c.823G>T	ENSP00000488986.1:p.Glu275Ter
ENST00000634838.1:c.994G>T	ENSP00000489268.1:p.Glu332Ter
ENST00000634852.1:n.733G>T
ENST00000634944.1:c.1036G>T	ENSP00000488972.1:p.Glu346Ter
ENST00000635003.1:c.835G>T	ENSP00000489080.1:p.Glu279Ter