Canonical Allele Identifier: CA412945038
Community Standard Title: NM_001029896.2(WDR45):c.517-2A>G
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075755T>C , CM000685.2:g.49075755T>C GRCh38
NC_000023.10:g.48933414T>C , CM000685.1:g.48933414T>C GRCh37
NC_000023.9:g.48820358T>C NCBI36
NG_033004.1:g.29646A>G
NG_033004.2:g.30416A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.517-2A>G MANE Select NP_001025067.1:n.517-2A>G
ENST00000376372.9:c.517-2A>G MANE Select ENSP00000365551.3:n.517-2A>G
NM_001029896.1:c.517-2A>G NP_001025067.1:n.517-2A>G
NM_007075.3:c.520-2A>G NP_009006.2:n.520-2A>G
NM_007075.4:c.520-2A>G NP_009006.2:n.520-2A>G
ENST00000322995.13:c.550-2A>G ENSP00000365543.5:n.550-2A>G
ENST00000356463.7:c.520-2A>G ENSP00000348848.3:n.520-2A>G
ENST00000367375.8:c.386-92A>G
ENST00000376358.4:c.211-2A>G ENSP00000365536.3:n.211-2A>G
ENST00000376368.7:c.520-2A>G ENSP00000365546.2:n.520-2A>G
ENST00000376372.8:c.517-2A>G ENSP00000365551.3:n.517-2A>G
ENST00000396681.9:c.412-2A>G ENSP00000379913.5:n.412-2A>G
ENST00000419567.7:c.541-2A>G ENSP00000393640.3:n.541-2A>G
ENST00000423215.3:c.571-2A>G ENSP00000397657.3:n.571-2A>G
ENST00000433252.7:n.91-2A>G
ENST00000465806.6:n.1674-2A>G
ENST00000471338.6:c.517-2A>G ENSP00000418466.2:n.517-2A>G
ENST00000472654.1:n.507-2A>G
ENST00000473974.5:c.517-2A>G ENSP00000417211.1:n.517-2A>G
ENST00000474053.6:c.592-2A>G ENSP00000420728.1:n.592-2A>G
ENST00000475880.6:c.415-2A>G ENSP00000418919.2:n.415-2A>G
ENST00000475977.2:c.13-2A>G ENSP00000417754.2:n.13-2A>G
ENST00000480412.2:n.120A>G
ENST00000485908.6:c.412-2A>G ENSP00000419897.1:n.412-2A>G
ENST00000634522.1:c.*168-2A>G ENSP00000489330.1:n.*168-2A>G
ENST00000634559.1:c.316-2A>G ENSP00000488986.1:n.316-2A>G
ENST00000634736.1:c.211-2A>G ENSP00000489561.1:n.211-2A>G
ENST00000634838.1:c.517-2A>G ENSP00000489268.1:n.517-2A>G
ENST00000634852.1:n.214-2A>G
ENST00000634944.1:c.517-2A>G ENSP00000488972.1:n.517-2A>G
ENST00000635003.1:c.316-2A>G ENSP00000489080.1:n.316-2A>G
ENST00000635344.1:c.*168-2A>G ENSP00000489553.1:n.*168-2A>G
ENST00000635666.1:c.445-2A>G ENSP00000489128.1:n.445-2A>G