Canonical Allele Identifier: CA16609189

Gene: WDR45

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49076425C>T , CM000685.2:g.49076425C>T	GRCh38
NC_000023.10:g.48934084C>T , CM000685.1:g.48934084C>T	GRCh37
NC_000023.9:g.48821028C>T	NCBI36
NG_033004.1:g.28976G>A
NG_033004.2:g.29746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376372.9:c.436+5G>A MANE Select	ENSP00000365551.3:n.436+5G>A
ENST00000322995.13:c.436+5G>A	ENSP00000365543.5:n.436+5G>A
ENST00000356463.7:c.439+5G>A	ENSP00000348848.3:n.439+5G>A
ENST00000367375.8:c.305+5G>A
ENST00000376358.4:c.131-480G>A	ENSP00000365536.3:n.131-480G>A
ENST00000376368.7:c.439+5G>A	ENSP00000365546.2:n.439+5G>A
ENST00000376372.8:c.436+5G>A	ENSP00000365551.3:n.436+5G>A
ENST00000396681.9:c.331+5G>A	ENSP00000379913.5:n.331+5G>A
ENST00000419567.7:c.441G>A	ENSP00000393640.3:p.Glu147=
ENST00000423215.3:c.490+5G>A	ENSP00000397657.3:n.490+5G>A
ENST00000465382.6:c.436+5G>A	ENSP00000420534.1:n.436+5G>A
ENST00000465806.6:n.1593+5G>A
ENST00000471338.6:c.436+5G>A	ENSP00000418466.2:n.436+5G>A
ENST00000472654.1:n.341+5G>A
ENST00000473974.5:c.436+5G>A	ENSP00000417211.1:n.436+5G>A
ENST00000474053.6:c.511+5G>A	ENSP00000420728.1:n.511+5G>A
ENST00000475880.6:c.334+5G>A	ENSP00000418919.2:n.334+5G>A
ENST00000476728.5:c.331+5G>A	ENSP00000419324.1:n.331+5G>A
ENST00000485908.6:c.331+5G>A	ENSP00000419897.1:n.331+5G>A
ENST00000634465.1:n.719G>A
ENST00000634522.1:c.*87+5G>A	ENSP00000489330.1:n.*87+5G>A
ENST00000634559.1:c.236-480G>A	ENSP00000488986.1:n.236-480G>A
ENST00000634736.1:c.131-480G>A	ENSP00000489561.1:n.131-480G>A
ENST00000634838.1:c.436+5G>A	ENSP00000489268.1:n.436+5G>A
ENST00000634852.1:n.133+5G>A
ENST00000634944.1:c.436+5G>A	ENSP00000488972.1:n.436+5G>A
ENST00000635003.1:c.236-480G>A	ENSP00000489080.1:n.236-480G>A
ENST00000635344.1:c.*87+5G>A	ENSP00000489553.1:n.*87+5G>A
ENST00000635666.1:c.364+5G>A	ENSP00000489128.1:n.364+5G>A
NM_001029896.1:c.436+5G>A	NP_001025067.1:n.436+5G>A
NM_007075.3:c.439+5G>A	NP_009006.2:n.439+5G>A
NM_001029896.2:c.436+5G>A MANE Select	NP_001025067.1:n.436+5G>A
NM_007075.4:c.439+5G>A	NP_009006.2:n.439+5G>A