Canonical Allele Identifier: CA413450468

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035575G>A , CM000685.2:g.70035575G>A	GRCh38
NC_000023.10:g.69255425G>A , CM000685.1:g.69255425G>A	GRCh37
NC_000023.9:g.69172150G>A	NCBI36
NG_009809.1:g.424515G>A
NG_009809.2:g.424509G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.1142G>A MANE Select	NP_001390.1:p.Gly381Glu
ENST00000374552.9:c.1142G>A MANE Select	ENSP00000363680.4:p.Gly381Glu
NM_001005609.1:c.1136G>A	NP_001005609.1:p.Gly379Glu
NM_001005609.2:c.1136G>A	NP_001005609.1:p.Gly379Glu
NM_001005612.2:c.1127G>A	NP_001005612.2:p.Gly376Glu
NM_001005612.3:c.1127G>A	NP_001005612.2:p.Gly376Glu
NM_001399.4:c.1142G>A	NP_001390.1:p.Gly381Glu
ENST00000374552.8:c.1142G>A	ENSP00000363680.4:p.Gly381Glu
ENST00000374553.6:c.1136G>A	ENSP00000363681.2:p.Gly379Glu
ENST00000524573.5:c.1127G>A	ENSP00000432585.1:p.Gly376Glu
ENST00000616899.1:c.746G>A	ENSP00000481963.1:p.Gly249Glu
XM_006724630.2:c.1133G>A	XP_006724693.1:p.Gly378Glu
XM_017029336.1:c.1100G>A	XP_016884825.1:p.Gly367Glu