Canonical Allele Identifier: CA412945586
Community Standard Title: NM_001029896.2(WDR45):c.437-3T>G
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075948A>C , CM000685.2:g.49075948A>C GRCh38
NC_000023.10:g.48933607A>C , CM000685.1:g.48933607A>C GRCh37
NC_000023.9:g.48820551A>C NCBI36
NG_033004.1:g.29453T>G
NG_033004.2:g.30223T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.437-3T>G MANE Select NP_001025067.1:n.437-3T>G
ENST00000376372.9:c.437-3T>G MANE Select ENSP00000365551.3:n.437-3T>G
NM_001029896.1:c.437-3T>G NP_001025067.1:n.437-3T>G
NM_007075.3:c.440-3T>G NP_009006.2:n.440-3T>G
NM_007075.4:c.440-3T>G NP_009006.2:n.440-3T>G
ENST00000322995.13:c.467T>G ENSP00000365543.5:p.Leu156Arg
ENST00000356463.7:c.440-3T>G ENSP00000348848.3:n.440-3T>G
ENST00000367375.8:c.306-3T>G
ENST00000376358.4:c.131-3T>G ENSP00000365536.3:n.131-3T>G
ENST00000376368.7:c.440-3T>G ENSP00000365546.2:n.440-3T>G
ENST00000376372.8:c.437-3T>G ENSP00000365551.3:n.437-3T>G
ENST00000396681.9:c.332-3T>G ENSP00000379913.5:n.332-3T>G
ENST00000419567.7:c.461-3T>G ENSP00000393640.3:n.461-3T>G
ENST00000423215.3:c.491-3T>G ENSP00000397657.3:n.491-3T>G
ENST00000433252.7:n.8T>G
ENST00000465382.6:c.467T>G ENSP00000420534.1:p.Leu156Arg
ENST00000465806.6:n.1594-3T>G
ENST00000471338.6:c.437-3T>G ENSP00000418466.2:n.437-3T>G
ENST00000472654.1:n.427-3T>G
ENST00000473974.5:c.437-3T>G ENSP00000417211.1:n.437-3T>G
ENST00000474053.6:c.512-3T>G ENSP00000420728.1:n.512-3T>G
ENST00000475880.6:c.335-3T>G ENSP00000418919.2:n.335-3T>G
ENST00000476728.5:c.362T>G ENSP00000419324.1:p.Leu121Arg
ENST00000485908.6:c.332-3T>G ENSP00000419897.1:n.332-3T>G
ENST00000634522.1:c.*88-3T>G ENSP00000489330.1:n.*88-3T>G
ENST00000634559.1:c.236-3T>G ENSP00000488986.1:n.236-3T>G
ENST00000634736.1:c.131-3T>G ENSP00000489561.1:n.131-3T>G
ENST00000634838.1:c.437-3T>G ENSP00000489268.1:n.437-3T>G
ENST00000634852.1:n.134-3T>G
ENST00000634944.1:c.437-3T>G ENSP00000488972.1:n.437-3T>G
ENST00000635003.1:c.236-3T>G ENSP00000489080.1:n.236-3T>G
ENST00000635344.1:c.*88-3T>G ENSP00000489553.1:n.*88-3T>G
ENST00000635666.1:c.365-3T>G ENSP00000489128.1:n.365-3T>G