Canonical Allele Identifier: CA413450125

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035499G>A , CM000685.2:g.70035499G>A	GRCh38
NC_000023.10:g.69255349G>A , CM000685.1:g.69255349G>A	GRCh37
NC_000023.9:g.69172074G>A	NCBI36
NG_009809.1:g.424439G>A
NG_009809.2:g.424433G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.1066G>A MANE Select	NP_001390.1:p.Ala356Thr
ENST00000374552.9:c.1066G>A MANE Select	ENSP00000363680.4:p.Ala356Thr
NM_001005609.1:c.1060G>A	NP_001005609.1:p.Ala354Thr
NM_001005609.2:c.1060G>A	NP_001005609.1:p.Ala354Thr
NM_001005612.2:c.1051G>A	NP_001005612.2:p.Ala351Thr
NM_001005612.3:c.1051G>A	NP_001005612.2:p.Ala351Thr
NM_001399.4:c.1066G>A	NP_001390.1:p.Ala356Thr
ENST00000374552.8:c.1066G>A	ENSP00000363680.4:p.Ala356Thr
ENST00000374553.6:c.1060G>A	ENSP00000363681.2:p.Ala354Thr
ENST00000524573.5:c.1051G>A	ENSP00000432585.1:p.Ala351Thr
ENST00000616899.1:c.670G>A	ENSP00000481963.1:p.Ala224Thr
XM_006724630.2:c.1057G>A	XP_006724693.1:p.Ala353Thr
XM_017029336.1:c.1024G>A	XP_016884825.1:p.Ala342Thr