Canonical Allele Identifier: CA412942573

Gene: WDR45

Linked Data

• gnomAD v4: X-49075364-G-A
• MyVariant Identifiers: chrX:g.48933023G>A (hg19) ; chrX:g.49075364G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075364G>A , CM000685.2:g.49075364G>A	GRCh38
NC_000023.10:g.48933023G>A , CM000685.1:g.48933023G>A	GRCh37
NC_000023.9:g.48819967G>A	NCBI36
NG_033004.1:g.30037C>T
NG_033004.2:g.30807C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376372.9:c.827C>T MANE Select	ENSP00000365551.3:p.Ala276Val
ENST00000322995.13:c.860C>T	ENSP00000365543.5:p.Ala287Val
ENST00000356463.7:c.830C>T	ENSP00000348848.3:p.Ala277Val
ENST00000367375.8:c.606C>T
ENST00000376358.4:c.521C>T	ENSP00000365536.3:p.Ala174Val
ENST00000376368.7:c.830C>T	ENSP00000365546.2:p.Ala277Val
ENST00000376372.8:c.827C>T	ENSP00000365551.3:p.Ala276Val
ENST00000396681.9:c.710C>T	ENSP00000379913.5:p.Ala237Val
ENST00000433252.7:n.401C>T
ENST00000465806.6:n.1984C>T
ENST00000473974.5:c.725+181C>T	ENSP00000417211.1:n.725+181C>T
ENST00000475880.6:c.725C>T
ENST00000475977.2:c.323C>T	ENSP00000417754.2:p.Ala108Val
ENST00000480412.2:n.432C>T
ENST00000485908.6:c.722C>T	ENSP00000419897.1:p.Ala241Val
ENST00000486337.6:c.15C>T
ENST00000634559.1:c.614C>T	ENSP00000488986.1:p.Ala205Val
ENST00000634736.1:c.521C>T	ENSP00000489561.1:p.Ala174Val
ENST00000634838.1:c.785C>T	ENSP00000489268.1:p.Ala262Val
ENST00000634852.1:n.524C>T
ENST00000634944.1:c.827C>T	ENSP00000488972.1:p.Ala276Val
ENST00000635003.1:c.626C>T	ENSP00000489080.1:p.Ala209Val
ENST00000635666.1:c.755C>T	ENSP00000489128.1:p.Ala252Val
NM_001029896.1:c.827C>T	NP_001025067.1:p.Ala276Val
NM_007075.3:c.830C>T	NP_009006.2:p.Ala277Val
NM_001029896.2:c.827C>T MANE Select	NP_001025067.1:p.Ala276Val
NM_007075.4:c.830C>T	NP_009006.2:p.Ala277Val