Canonical Allele Identifier: CA353447
Gene: WDR45 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075135C>T , CM000685.2:g.49075135C>T GRCh38
NC_000023.10:g.48932794C>T , CM000685.1:g.48932794C>T GRCh37
NC_000023.9:g.48819738C>T NCBI36
NG_033004.1:g.30266G>A
NG_033004.2:g.31036G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376372.9:c.973+1G>A MANE Select ENSP00000365551.3:n.973+1G>A
ENST00000322995.13:c.1006+1G>A ENSP00000365543.5:n.1006+1G>A
ENST00000356463.7:c.976+1G>A ENSP00000348848.3:n.976+1G>A
ENST00000367375.8:c.752+1G>A
ENST00000376358.4:c.521+229G>A ENSP00000365536.3:n.521+229G>A
ENST00000376368.7:c.976+1G>A ENSP00000365546.2:n.976+1G>A
ENST00000376372.8:c.973+1G>A ENSP00000365551.3:n.973+1G>A
ENST00000396681.9:c.856+1G>A ENSP00000379913.5:n.856+1G>A
ENST00000433252.7:n.630G>A
ENST00000465806.6:n.2130+1G>A
ENST00000473974.5:c.726-223G>A ENSP00000417211.1:n.726-223G>A
ENST00000475977.2:c.324-223G>A ENSP00000417754.2:n.324-223G>A
ENST00000485908.6:c.868+1G>A ENSP00000419897.1:n.868+1G>A
ENST00000486337.6:c.161+1G>A
ENST00000634559.1:c.760+1G>A ENSP00000488986.1:n.760+1G>A
ENST00000634838.1:c.931+1G>A ENSP00000489268.1:n.931+1G>A
ENST00000634852.1:n.670+1G>A
ENST00000634944.1:c.973+1G>A ENSP00000488972.1:n.973+1G>A
ENST00000635003.1:c.772+1G>A ENSP00000489080.1:n.772+1G>A
NM_001029896.1:c.973+1G>A NP_001025067.1:n.973+1G>A
NM_007075.3:c.976+1G>A NP_009006.2:n.976+1G>A
NM_001029896.2:c.973+1G>A MANE Select NP_001025067.1:n.973+1G>A
NM_007075.4:c.976+1G>A NP_009006.2:n.976+1G>A
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