Canonical Allele Identifier: CA412941200

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49074835A>G , CM000685.2:g.49074835A>G	GRCh38
NC_000023.10:g.48932494A>G , CM000685.1:g.48932494A>G	GRCh37
NC_000023.9:g.48819438A>G	NCBI36
NG_033004.1:g.30566T>C
NG_033004.2:g.31336T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.1051T>C MANE Select	NP_001025067.1:p.Tyr351His
ENST00000376372.9:c.1051T>C MANE Select	ENSP00000365551.3:p.Tyr351His
NM_001029896.1:c.1051T>C	NP_001025067.1:p.Tyr351His
NM_007075.3:c.1054T>C	NP_009006.2:p.Tyr352His
NM_007075.4:c.1054T>C	NP_009006.2:p.Tyr352His
ENST00000322995.13:c.1084T>C	ENSP00000365543.5:p.Tyr362His
ENST00000356463.7:c.1054T>C	ENSP00000348848.3:p.Tyr352His
ENST00000367375.8:c.830T>C
ENST00000376358.4:c.521+529T>C	ENSP00000365536.3:n.521+529T>C
ENST00000376368.7:c.1054T>C	ENSP00000365546.2:p.Tyr352His
ENST00000376372.8:c.1051T>C	ENSP00000365551.3:p.Tyr351His
ENST00000396681.9:c.934T>C	ENSP00000379913.5:p.Tyr312His
ENST00000433252.7:n.930T>C
ENST00000465806.6:n.2208T>C
ENST00000473974.5:c.*32T>C	ENSP00000417211.1:n.*32T>C
ENST00000475977.2:c.401T>C	ENSP00000417754.2:n.401T>C
ENST00000485908.6:c.946T>C	ENSP00000419897.1:p.Tyr316His
ENST00000486337.6:c.227T>C
ENST00000634559.1:c.838T>C	ENSP00000488986.1:p.Tyr280His
ENST00000634838.1:c.1009T>C	ENSP00000489268.1:p.Tyr337His
ENST00000634852.1:n.748T>C
ENST00000634944.1:c.1051T>C	ENSP00000488972.1:p.Tyr351His
ENST00000635003.1:c.850T>C	ENSP00000489080.1:p.Tyr284His