Canonical Allele Identifier: CA412942561

Gene: WDR45

Linked Data

• MyVariant Identifiers: chrX:g.48933021A>C (hg19) ; chrX:g.49075362A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075362A>C , CM000685.2:g.49075362A>C	GRCh38
NC_000023.10:g.48933021A>C , CM000685.1:g.48933021A>C	GRCh37
NC_000023.9:g.48819965A>C	NCBI36
NG_033004.1:g.30039T>G
NG_033004.2:g.30809T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376372.9:c.827+2T>G MANE Select	ENSP00000365551.3:n.827+2T>G
ENST00000322995.13:c.860+2T>G	ENSP00000365543.5:n.860+2T>G
ENST00000356463.7:c.830+2T>G	ENSP00000348848.3:n.830+2T>G
ENST00000367375.8:c.606+2T>G
ENST00000376358.4:c.521+2T>G	ENSP00000365536.3:n.521+2T>G
ENST00000376368.7:c.830+2T>G	ENSP00000365546.2:n.830+2T>G
ENST00000376372.8:c.827+2T>G	ENSP00000365551.3:n.827+2T>G
ENST00000396681.9:c.710+2T>G	ENSP00000379913.5:n.710+2T>G
ENST00000433252.7:n.403T>G
ENST00000465806.6:n.1984+2T>G
ENST00000473974.5:c.725+183T>G	ENSP00000417211.1:n.725+183T>G
ENST00000475977.2:c.323+2T>G	ENSP00000417754.2:n.323+2T>G
ENST00000480412.2:n.434T>G
ENST00000485908.6:c.722+2T>G	ENSP00000419897.1:n.722+2T>G
ENST00000486337.6:c.15+2T>G
ENST00000634559.1:c.614+2T>G	ENSP00000488986.1:n.614+2T>G
ENST00000634736.1:c.521+2T>G	ENSP00000489561.1:n.521+2T>G
ENST00000634838.1:c.785+2T>G	ENSP00000489268.1:n.785+2T>G
ENST00000634852.1:n.524+2T>G
ENST00000634944.1:c.827+2T>G	ENSP00000488972.1:n.827+2T>G
ENST00000635003.1:c.626+2T>G	ENSP00000489080.1:n.626+2T>G
ENST00000635666.1:c.755+2T>G	ENSP00000489128.1:n.755+2T>G
NM_001029896.1:c.827+2T>G	NP_001025067.1:n.827+2T>G
NM_007075.3:c.830+2T>G	NP_009006.2:n.830+2T>G
NM_001029896.2:c.827+2T>G MANE Select	NP_001025067.1:n.827+2T>G
NM_007075.4:c.830+2T>G	NP_009006.2:n.830+2T>G