Canonical Allele Identifier: CA10583989
Gene: WDR45 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075659C>T , CM000685.2:g.49075659C>T GRCh38
NC_000023.10:g.48933318C>T , CM000685.1:g.48933318C>T GRCh37
NC_000023.9:g.48820262C>T NCBI36
NG_033004.1:g.29742G>A
NG_033004.2:g.30512G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376372.9:c.611G>A MANE Select ENSP00000365551.3:p.Gly204Asp
ENST00000322995.13:c.644G>A ENSP00000365543.5:p.Gly215Asp
ENST00000356463.7:c.614G>A ENSP00000348848.3:p.Gly205Asp
ENST00000367375.8:c.390G>A
ENST00000376358.4:c.305G>A ENSP00000365536.3:p.Gly102Asp
ENST00000376368.7:c.614G>A ENSP00000365546.2:p.Gly205Asp
ENST00000376372.8:c.611G>A ENSP00000365551.3:p.Gly204Asp
ENST00000396681.9:c.506G>A ENSP00000379913.5:p.Gly169Asp
ENST00000433252.7:n.185G>A
ENST00000465806.6:n.1768G>A
ENST00000472654.1:n.601G>A
ENST00000473974.5:c.611G>A ENSP00000417211.1:p.Gly204Asp
ENST00000475880.6:c.509G>A ENSP00000418919.2:p.Gly170Asp
ENST00000475977.2:c.107G>A ENSP00000417754.2:p.Gly36Asp
ENST00000480412.2:n.216G>A
ENST00000485908.6:c.506G>A ENSP00000419897.1:p.Gly169Asp
ENST00000634559.1:c.410G>A ENSP00000488986.1:p.Gly137Asp
ENST00000634736.1:c.305G>A ENSP00000489561.1:p.Gly102Asp
ENST00000634838.1:c.611G>A ENSP00000489268.1:p.Gly204Asp
ENST00000634852.1:n.308G>A
ENST00000634944.1:c.611G>A ENSP00000488972.1:p.Gly204Asp
ENST00000635003.1:c.410G>A ENSP00000489080.1:p.Gly137Asp
ENST00000635344.1:c.*262G>A ENSP00000489553.1:n.*262G>A
ENST00000635666.1:c.539G>A ENSP00000489128.1:p.Gly180Asp
NM_001029896.1:c.611G>A NP_001025067.1:p.Gly204Asp
NM_007075.3:c.614G>A NP_009006.2:p.Gly205Asp
NM_001029896.2:c.611G>A MANE Select NP_001025067.1:p.Gly204Asp
NM_007075.4:c.614G>A NP_009006.2:p.Gly205Asp