Canonical Allele Identifier: CA412946549
Community Standard Title: NM_001029896.2(WDR45):c.342-2A>C
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49076526T>G , CM000685.2:g.49076526T>G GRCh38
NC_000023.10:g.48934185T>G , CM000685.1:g.48934185T>G GRCh37
NC_000023.9:g.48821129T>G NCBI36
NG_033004.1:g.28875A>C
NG_033004.2:g.29645A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.342-2A>C MANE Select NP_001025067.1:n.342-2A>C
ENST00000376372.9:c.342-2A>C MANE Select ENSP00000365551.3:n.342-2A>C
NM_001029896.1:c.342-2A>C NP_001025067.1:n.342-2A>C
NM_007075.3:c.345-2A>C NP_009006.2:n.345-2A>C
NM_007075.4:c.345-2A>C NP_009006.2:n.345-2A>C
ENST00000322995.13:c.342-2A>C ENSP00000365543.5:n.342-2A>C
ENST00000356463.7:c.345-2A>C ENSP00000348848.3:n.345-2A>C
ENST00000367375.8:c.211-2A>C
ENST00000376358.4:c.131-581A>C ENSP00000365536.3:n.131-581A>C
ENST00000376368.7:c.345-2A>C ENSP00000365546.2:n.345-2A>C
ENST00000376372.8:c.342-2A>C ENSP00000365551.3:n.342-2A>C
ENST00000396681.9:c.237-2A>C ENSP00000379913.5:n.237-2A>C
ENST00000419567.7:c.342-2A>C ENSP00000393640.3:n.342-2A>C
ENST00000423215.3:c.396-2A>C ENSP00000397657.3:n.396-2A>C
ENST00000465382.6:c.342-2A>C ENSP00000420534.1:n.342-2A>C
ENST00000465806.6:n.1499-2A>C
ENST00000471338.6:c.342-2A>C ENSP00000418466.2:n.342-2A>C
ENST00000472654.1:n.247-2A>C
ENST00000473974.5:c.342-2A>C ENSP00000417211.1:n.342-2A>C
ENST00000474053.6:c.417-2A>C ENSP00000420728.1:n.417-2A>C
ENST00000475880.6:c.240-2A>C ENSP00000418919.2:n.240-2A>C
ENST00000476728.5:c.237-2A>C ENSP00000419324.1:n.237-2A>C
ENST00000485908.6:c.237-2A>C ENSP00000419897.1:n.237-2A>C
ENST00000634465.1:n.620-2A>C
ENST00000634522.1:c.236-2A>C ENSP00000489330.1:n.236-2A>C
ENST00000634559.1:c.236-581A>C ENSP00000488986.1:n.236-581A>C
ENST00000634736.1:c.131-581A>C ENSP00000489561.1:n.131-581A>C
ENST00000634838.1:c.342-2A>C ENSP00000489268.1:n.342-2A>C
ENST00000634849.1:c.411-2A>C ENSP00000489150.1:n.411-2A>C
ENST00000634852.1:n.100-63A>C
ENST00000634944.1:c.342-2A>C ENSP00000488972.1:n.342-2A>C
ENST00000635003.1:c.236-581A>C ENSP00000489080.1:n.236-581A>C
ENST00000635329.1:n.151-2A>C
ENST00000635344.1:c.131-2A>C ENSP00000489553.1:n.131-2A>C
ENST00000635666.1:c.270-2A>C ENSP00000489128.1:n.270-2A>C