Canonical Allele Identifier: CA516363965
Community Standard Title: NM_001029896.2(WDR45):c.894G>A (p.Ala298=)
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075215C>T , CM000685.2:g.49075215C>T GRCh38
NC_000023.10:g.48932874C>T , CM000685.1:g.48932874C>T GRCh37
NC_000023.9:g.48819818C>T NCBI36
NG_033004.1:g.30186G>A
NG_033004.2:g.30956G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.894G>A MANE Select NP_001025067.1:p.Ala298=
ENST00000376372.9:c.894G>A MANE Select ENSP00000365551.3:p.Ala298=
NM_001029896.1:c.894G>A NP_001025067.1:p.Ala298=
NM_007075.3:c.897G>A NP_009006.2:p.Ala299=
NM_007075.4:c.897G>A NP_009006.2:p.Ala299=
ENST00000322995.13:c.927G>A ENSP00000365543.5:p.Ala309=
ENST00000356463.7:c.897G>A ENSP00000348848.3:p.Ala299=
ENST00000367375.8:c.673G>A
ENST00000376358.4:c.521+149G>A ENSP00000365536.3:n.521+149G>A
ENST00000376368.7:c.897G>A ENSP00000365546.2:p.Ala299=
ENST00000376372.8:c.894G>A ENSP00000365551.3:p.Ala298=
ENST00000396681.9:c.777G>A ENSP00000379913.5:p.Ala259=
ENST00000433252.7:n.550G>A
ENST00000465806.6:n.2051G>A
ENST00000473974.5:c.726-303G>A ENSP00000417211.1:n.726-303G>A
ENST00000475977.2:c.323+149G>A ENSP00000417754.2:n.323+149G>A
ENST00000485908.6:c.789G>A ENSP00000419897.1:p.Ala263=
ENST00000486337.6:c.82G>A
ENST00000634559.1:c.681G>A ENSP00000488986.1:p.Ala227=
ENST00000634736.1:c.588G>A ENSP00000489561.1:p.Ala196=
ENST00000634838.1:c.852G>A ENSP00000489268.1:p.Ala284=
ENST00000634852.1:n.591G>A
ENST00000634944.1:c.894G>A ENSP00000488972.1:p.Ala298=
ENST00000635003.1:c.693G>A ENSP00000489080.1:p.Ala231=