Canonical Allele Identifier: CA413449379

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035381C>A , CM000685.2:g.70035381C>A	GRCh38
NC_000023.10:g.69255231C>A , CM000685.1:g.69255231C>A	GRCh37
NC_000023.9:g.69171956C>A	NCBI36
NG_009809.1:g.424321C>A
NG_009809.2:g.424315C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.948C>A MANE Select	NP_001390.1:p.Asp316Glu
ENST00000374552.9:c.948C>A MANE Select	ENSP00000363680.4:p.Asp316Glu
NM_001005609.1:c.942C>A	NP_001005609.1:p.Asp314Glu
NM_001005609.2:c.942C>A	NP_001005609.1:p.Asp314Glu
NM_001005612.2:c.933C>A	NP_001005612.2:p.Asp311Glu
NM_001005612.3:c.933C>A	NP_001005612.2:p.Asp311Glu
NM_001399.4:c.948C>A	NP_001390.1:p.Asp316Glu
ENST00000374552.8:c.948C>A	ENSP00000363680.4:p.Asp316Glu
ENST00000374553.6:c.942C>A	ENSP00000363681.2:p.Asp314Glu
ENST00000524573.5:c.933C>A	ENSP00000432585.1:p.Asp311Glu
ENST00000616899.1:c.552C>A	ENSP00000481963.1:p.Asp184Glu
XM_006724630.2:c.939C>A	XP_006724693.1:p.Asp313Glu
XM_017029336.1:c.906C>A	XP_016884825.1:p.Asp302Glu