Canonical Allele Identifier: CA412941906

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075157T>G , CM000685.2:g.49075157T>G	GRCh38
NC_000023.10:g.48932816T>G , CM000685.1:g.48932816T>G	GRCh37
NC_000023.9:g.48819760T>G	NCBI36
NG_033004.1:g.30244A>C
NG_033004.2:g.31014A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.952A>C MANE Select	NP_001025067.1:p.Lys318Gln
ENST00000376372.9:c.952A>C MANE Select	ENSP00000365551.3:p.Lys318Gln
NM_001029896.1:c.952A>C	NP_001025067.1:p.Lys318Gln
NM_007075.3:c.955A>C	NP_009006.2:p.Lys319Gln
NM_007075.4:c.955A>C	NP_009006.2:p.Lys319Gln
ENST00000322995.13:c.985A>C	ENSP00000365543.5:p.Lys329Gln
ENST00000356463.7:c.955A>C	ENSP00000348848.3:p.Lys319Gln
ENST00000367375.8:c.731A>C
ENST00000376358.4:c.521+207A>C	ENSP00000365536.3:n.521+207A>C
ENST00000376368.7:c.955A>C	ENSP00000365546.2:p.Lys319Gln
ENST00000376372.8:c.952A>C	ENSP00000365551.3:p.Lys318Gln
ENST00000396681.9:c.835A>C	ENSP00000379913.5:p.Lys279Gln
ENST00000433252.7:n.608A>C
ENST00000465806.6:n.2109A>C
ENST00000473974.5:c.726-245A>C	ENSP00000417211.1:n.726-245A>C
ENST00000475977.2:c.323+207A>C	ENSP00000417754.2:n.323+207A>C
ENST00000485908.6:c.847A>C	ENSP00000419897.1:p.Lys283Gln
ENST00000486337.6:c.140A>C
ENST00000634559.1:c.739A>C	ENSP00000488986.1:p.Lys247Gln
ENST00000634838.1:c.910A>C	ENSP00000489268.1:p.Lys304Gln
ENST00000634852.1:n.649A>C
ENST00000634944.1:c.952A>C	ENSP00000488972.1:p.Lys318Gln
ENST00000635003.1:c.751A>C	ENSP00000489080.1:p.Lys251Gln