Canonical Allele Identifier: CA10408541
Community Standard Title: NM_001029896.2(WDR45):c.389A>C (p.Asp130Ala)
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49076477T>G , CM000685.2:g.49076477T>G GRCh38
NC_000023.10:g.48934136T>G , CM000685.1:g.48934136T>G GRCh37
NC_000023.9:g.48821080T>G NCBI36
NG_033004.1:g.28924A>C
NG_033004.2:g.29694A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.389A>C MANE Select NP_001025067.1:p.Asp130Ala
ENST00000376372.9:c.389A>C MANE Select ENSP00000365551.3:p.Asp130Ala
NM_001029896.1:c.389A>C NP_001025067.1:p.Asp130Ala
NM_007075.3:c.392A>C NP_009006.2:p.Asp131Ala
NM_007075.4:c.392A>C NP_009006.2:p.Asp131Ala
ENST00000322995.13:c.389A>C ENSP00000365543.5:p.Asp130Ala
ENST00000356463.7:c.392A>C ENSP00000348848.3:p.Asp131Ala
ENST00000367375.8:c.258A>C
ENST00000376358.4:c.131-532A>C ENSP00000365536.3:n.131-532A>C
ENST00000376368.7:c.392A>C ENSP00000365546.2:p.Asp131Ala
ENST00000376372.8:c.389A>C ENSP00000365551.3:p.Asp130Ala
ENST00000396681.9:c.284A>C ENSP00000379913.5:p.Asp95Ala
ENST00000419567.7:c.389A>C ENSP00000393640.3:p.Asp130Ala
ENST00000423215.3:c.443A>C ENSP00000397657.3:p.Asp148Ala
ENST00000465382.6:c.389A>C ENSP00000420534.1:p.Asp130Ala
ENST00000465806.6:n.1546A>C
ENST00000471338.6:c.389A>C ENSP00000418466.2:p.Asp130Ala
ENST00000472654.1:n.294A>C
ENST00000473974.5:c.389A>C ENSP00000417211.1:p.Asp130Ala
ENST00000474053.6:c.464A>C ENSP00000420728.1:p.Asp155Ala
ENST00000475880.6:c.287A>C ENSP00000418919.2:p.Asp96Ala
ENST00000476728.5:c.284A>C ENSP00000419324.1:p.Asp95Ala
ENST00000485908.6:c.284A>C ENSP00000419897.1:p.Asp95Ala
ENST00000634465.1:n.667A>C
ENST00000634522.1:c.*40A>C ENSP00000489330.1:n.*40A>C
ENST00000634559.1:c.236-532A>C ENSP00000488986.1:n.236-532A>C
ENST00000634736.1:c.131-532A>C ENSP00000489561.1:n.131-532A>C
ENST00000634838.1:c.389A>C ENSP00000489268.1:p.Asp130Ala
ENST00000634849.1:c.458A>C ENSP00000489150.1:p.Asp153Ala
ENST00000634852.1:n.100-14A>C
ENST00000634944.1:c.389A>C ENSP00000488972.1:p.Asp130Ala
ENST00000635003.1:c.236-532A>C ENSP00000489080.1:n.236-532A>C
ENST00000635344.1:c.*40A>C ENSP00000489553.1:n.*40A>C
ENST00000635666.1:c.317A>C ENSP00000489128.1:p.Asp106Ala