Canonical Allele Identifier: CA10408447

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075162G>C , CM000685.2:g.49075162G>C	GRCh38
NC_000023.10:g.48932821G>C , CM000685.1:g.48932821G>C	GRCh37
NC_000023.9:g.48819765G>C	NCBI36
NG_033004.1:g.30239C>G
NG_033004.2:g.31009C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.947C>G MANE Select	NP_001025067.1:p.Thr316Ser
ENST00000376372.9:c.947C>G MANE Select	ENSP00000365551.3:p.Thr316Ser
NM_001029896.1:c.947C>G	NP_001025067.1:p.Thr316Ser
NM_007075.3:c.950C>G	NP_009006.2:p.Thr317Ser
NM_007075.4:c.950C>G	NP_009006.2:p.Thr317Ser
ENST00000322995.13:c.980C>G	ENSP00000365543.5:p.Thr327Ser
ENST00000356463.7:c.950C>G	ENSP00000348848.3:p.Thr317Ser
ENST00000367375.8:c.726C>G
ENST00000376358.4:c.521+202C>G	ENSP00000365536.3:n.521+202C>G
ENST00000376368.7:c.950C>G	ENSP00000365546.2:p.Thr317Ser
ENST00000376372.8:c.947C>G	ENSP00000365551.3:p.Thr316Ser
ENST00000396681.9:c.830C>G	ENSP00000379913.5:p.Thr277Ser
ENST00000433252.7:n.603C>G
ENST00000465806.6:n.2104C>G
ENST00000473974.5:c.726-250C>G	ENSP00000417211.1:n.726-250C>G
ENST00000475977.2:c.323+202C>G	ENSP00000417754.2:n.323+202C>G
ENST00000485908.6:c.842C>G	ENSP00000419897.1:p.Thr281Ser
ENST00000486337.6:c.135C>G
ENST00000634559.1:c.734C>G	ENSP00000488986.1:p.Thr245Ser
ENST00000634838.1:c.905C>G	ENSP00000489268.1:p.Thr302Ser
ENST00000634852.1:n.644C>G
ENST00000634944.1:c.947C>G	ENSP00000488972.1:p.Thr316Ser
ENST00000635003.1:c.746C>G	ENSP00000489080.1:p.Thr249Ser