Canonical Allele Identifier: CA412945582
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075947T>G , CM000685.2:g.49075947T>G GRCh38
NC_000023.10:g.48933606T>G , CM000685.1:g.48933606T>G GRCh37
NC_000023.9:g.48820550T>G NCBI36
NG_033004.1:g.29454A>C
NG_033004.2:g.30224A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376372.9:c.437-2A>C MANE Select ENSP00000365551.3:n.437-2A>C
ENST00000322995.13:c.468A>C ENSP00000365543.5:p.Leu156=
ENST00000356463.7:c.440-2A>C ENSP00000348848.3:n.440-2A>C
ENST00000367375.8:c.306-2A>C
ENST00000376358.4:c.131-2A>C ENSP00000365536.3:n.131-2A>C
ENST00000376368.7:c.440-2A>C ENSP00000365546.2:n.440-2A>C
ENST00000376372.8:c.437-2A>C ENSP00000365551.3:n.437-2A>C
ENST00000396681.9:c.332-2A>C ENSP00000379913.5:n.332-2A>C
ENST00000419567.7:c.461-2A>C ENSP00000393640.3:n.461-2A>C
ENST00000423215.3:c.491-2A>C ENSP00000397657.3:n.491-2A>C
ENST00000433252.7:n.9A>C
ENST00000465382.6:c.468A>C ENSP00000420534.1:p.Leu156=
ENST00000465806.6:n.1594-2A>C
ENST00000471338.6:c.437-2A>C ENSP00000418466.2:n.437-2A>C
ENST00000472654.1:n.427-2A>C
ENST00000473974.5:c.437-2A>C ENSP00000417211.1:n.437-2A>C
ENST00000474053.6:c.512-2A>C ENSP00000420728.1:n.512-2A>C
ENST00000475880.6:c.335-2A>C ENSP00000418919.2:n.335-2A>C
ENST00000476728.5:c.363A>C ENSP00000419324.1:p.Leu121=
ENST00000485908.6:c.332-2A>C ENSP00000419897.1:n.332-2A>C
ENST00000634522.1:c.*88-2A>C ENSP00000489330.1:n.*88-2A>C
ENST00000634559.1:c.236-2A>C ENSP00000488986.1:n.236-2A>C
ENST00000634736.1:c.131-2A>C ENSP00000489561.1:n.131-2A>C
ENST00000634838.1:c.437-2A>C ENSP00000489268.1:n.437-2A>C
ENST00000634852.1:n.134-2A>C
ENST00000634944.1:c.437-2A>C ENSP00000488972.1:n.437-2A>C
ENST00000635003.1:c.236-2A>C ENSP00000489080.1:n.236-2A>C
ENST00000635344.1:c.*88-2A>C ENSP00000489553.1:n.*88-2A>C
ENST00000635666.1:c.365-2A>C ENSP00000489128.1:n.365-2A>C
NM_001029896.1:c.437-2A>C NP_001025067.1:n.437-2A>C
NM_007075.3:c.440-2A>C NP_009006.2:n.440-2A>C
NM_001029896.2:c.437-2A>C MANE Select NP_001025067.1:n.437-2A>C
NM_007075.4:c.440-2A>C NP_009006.2:n.440-2A>C