Canonical Allele Identifier: CA121313

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035505C>G , CM000685.2:g.70035505C>G	GRCh38
NC_000023.10:g.69255355C>G , CM000685.1:g.69255355C>G	GRCh37
NC_000023.9:g.69172080C>G	NCBI36
NG_009809.1:g.424445C>G
NG_009809.2:g.424439C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.1072C>G MANE Select	ENSP00000363680.4:p.Gln358Glu
ENST00000374552.8:c.1072C>G	ENSP00000363680.4:p.Gln358Glu
ENST00000374553.6:c.1066C>G	ENSP00000363681.2:p.Gln356Glu
ENST00000524573.5:c.1057C>G	ENSP00000432585.1:p.Gln353Glu
ENST00000616899.1:c.676C>G	ENSP00000481963.1:p.Gln226Glu
NM_001005609.1:c.1066C>G	NP_001005609.1:p.Gln356Glu
NM_001005612.2:c.1057C>G	NP_001005612.2:p.Gln353Glu
NM_001399.4:c.1072C>G	NP_001390.1:p.Gln358Glu
XM_006724630.2:c.1063C>G	XP_006724693.1:p.Gln355Glu
XM_017029336.1:c.1030C>G	XP_016884825.1:p.Gln344Glu
NM_001399.5:c.1072C>G MANE Select	NP_001390.1:p.Gln358Glu
NM_001005609.2:c.1066C>G	NP_001005609.1:p.Gln356Glu
NM_001005612.3:c.1057C>G	NP_001005612.2:p.Gln353Glu