Canonical Allele Identifier: CA412942328

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075244G>A , CM000685.2:g.49075244G>A	GRCh38
NC_000023.10:g.48932903G>A , CM000685.1:g.48932903G>A	GRCh37
NC_000023.9:g.48819847G>A	NCBI36
NG_033004.1:g.30157C>T
NG_033004.2:g.30927C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.865C>T MANE Select	NP_001025067.1:p.Gln289Ter
ENST00000376372.9:c.865C>T MANE Select	ENSP00000365551.3:p.Gln289Ter
NM_001029896.1:c.865C>T	NP_001025067.1:p.Gln289Ter
NM_007075.3:c.868C>T	NP_009006.2:p.Gln290Ter
NM_007075.4:c.868C>T	NP_009006.2:p.Gln290Ter
ENST00000322995.13:c.898C>T	ENSP00000365543.5:p.Gln300Ter
ENST00000356463.7:c.868C>T	ENSP00000348848.3:p.Gln290Ter
ENST00000367375.8:c.644C>T
ENST00000376358.4:c.521+120C>T	ENSP00000365536.3:n.521+120C>T
ENST00000376368.7:c.868C>T	ENSP00000365546.2:p.Gln290Ter
ENST00000376372.8:c.865C>T	ENSP00000365551.3:p.Gln289Ter
ENST00000396681.9:c.748C>T	ENSP00000379913.5:p.Gln250Ter
ENST00000433252.7:n.521C>T
ENST00000465806.6:n.2022C>T
ENST00000473974.5:c.725+301C>T	ENSP00000417211.1:n.725+301C>T
ENST00000475977.2:c.323+120C>T	ENSP00000417754.2:n.323+120C>T
ENST00000485908.6:c.760C>T	ENSP00000419897.1:p.Gln254Ter
ENST00000486337.6:c.53C>T
ENST00000634559.1:c.652C>T	ENSP00000488986.1:p.Gln218Ter
ENST00000634736.1:c.559C>T	ENSP00000489561.1:p.Gln187Ter
ENST00000634838.1:c.823C>T	ENSP00000489268.1:p.Gln275Ter
ENST00000634852.1:n.562C>T
ENST00000634944.1:c.865C>T	ENSP00000488972.1:p.Gln289Ter
ENST00000635003.1:c.664C>T	ENSP00000489080.1:p.Gln222Ter
ENST00000635666.1:c.805C>T	ENSP00000489128.1:p.Gln269Ter