Canonical Allele Identifier: CA412942544

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075283T>G , CM000685.2:g.49075283T>G	GRCh38
NC_000023.10:g.48932942T>G , CM000685.1:g.48932942T>G	GRCh37
NC_000023.9:g.48819886T>G	NCBI36
NG_033004.1:g.30118A>C
NG_033004.2:g.30888A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.828-2A>C MANE Select	NP_001025067.1:n.828-2A>C
ENST00000376372.9:c.828-2A>C MANE Select	ENSP00000365551.3:n.828-2A>C
NM_001029896.1:c.828-2A>C	NP_001025067.1:n.828-2A>C
NM_007075.3:c.831-2A>C	NP_009006.2:n.831-2A>C
NM_007075.4:c.831-2A>C	NP_009006.2:n.831-2A>C
ENST00000322995.13:c.861-2A>C	ENSP00000365543.5:n.861-2A>C
ENST00000356463.7:c.831-2A>C	ENSP00000348848.3:n.831-2A>C
ENST00000367375.8:c.607-2A>C
ENST00000376358.4:c.521+81A>C	ENSP00000365536.3:n.521+81A>C
ENST00000376368.7:c.831-2A>C	ENSP00000365546.2:n.831-2A>C
ENST00000376372.8:c.828-2A>C	ENSP00000365551.3:n.828-2A>C
ENST00000396681.9:c.711-2A>C	ENSP00000379913.5:n.711-2A>C
ENST00000433252.7:n.482A>C
ENST00000465806.6:n.1985-2A>C
ENST00000473974.5:c.725+262A>C	ENSP00000417211.1:n.725+262A>C
ENST00000475977.2:c.323+81A>C	ENSP00000417754.2:n.323+81A>C
ENST00000485908.6:c.723-2A>C	ENSP00000419897.1:n.723-2A>C
ENST00000486337.6:c.16-2A>C
ENST00000634559.1:c.615-2A>C	ENSP00000488986.1:n.615-2A>C
ENST00000634736.1:c.522-2A>C	ENSP00000489561.1:n.522-2A>C
ENST00000634838.1:c.786-2A>C	ENSP00000489268.1:n.786-2A>C
ENST00000634852.1:n.525-2A>C
ENST00000634944.1:c.828-2A>C	ENSP00000488972.1:n.828-2A>C
ENST00000635003.1:c.627-2A>C	ENSP00000489080.1:n.627-2A>C
ENST00000635666.1:c.766A>C	ENSP00000489128.1:p.Arg256=