Canonical Allele Identifier: CA413450051

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035481G>T , CM000685.2:g.70035481G>T	GRCh38
NC_000023.10:g.69255331G>T , CM000685.1:g.69255331G>T	GRCh37
NC_000023.9:g.69172056G>T	NCBI36
NG_009809.1:g.424421G>T
NG_009809.2:g.424415G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.1048G>T MANE Select	NP_001390.1:p.Gly350Cys
ENST00000374552.9:c.1048G>T MANE Select	ENSP00000363680.4:p.Gly350Cys
NM_001005609.1:c.1042G>T	NP_001005609.1:p.Gly348Cys
NM_001005609.2:c.1042G>T	NP_001005609.1:p.Gly348Cys
NM_001005612.2:c.1033G>T	NP_001005612.2:p.Gly345Cys
NM_001005612.3:c.1033G>T	NP_001005612.2:p.Gly345Cys
NM_001399.4:c.1048G>T	NP_001390.1:p.Gly350Cys
ENST00000374552.8:c.1048G>T	ENSP00000363680.4:p.Gly350Cys
ENST00000374553.6:c.1042G>T	ENSP00000363681.2:p.Gly348Cys
ENST00000524573.5:c.1033G>T	ENSP00000432585.1:p.Gly345Cys
ENST00000616899.1:c.652G>T	ENSP00000481963.1:p.Gly218Cys
XM_006724630.2:c.1039G>T	XP_006724693.1:p.Gly347Cys
XM_017029336.1:c.1006G>T	XP_016884825.1:p.Gly336Cys