Canonical Allele Identifier: CA413449664

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035419T>G , CM000685.2:g.70035419T>G	GRCh38
NC_000023.10:g.69255269T>G , CM000685.1:g.69255269T>G	GRCh37
NC_000023.9:g.69171994T>G	NCBI36
NG_009809.1:g.424359T>G
NG_009809.2:g.424353T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.986T>G MANE Select	NP_001390.1:p.Phe329Cys
ENST00000374552.9:c.986T>G MANE Select	ENSP00000363680.4:p.Phe329Cys
NM_001005609.1:c.980T>G	NP_001005609.1:p.Phe327Cys
NM_001005609.2:c.980T>G	NP_001005609.1:p.Phe327Cys
NM_001005612.2:c.971T>G	NP_001005612.2:p.Phe324Cys
NM_001005612.3:c.971T>G	NP_001005612.2:p.Phe324Cys
NM_001399.4:c.986T>G	NP_001390.1:p.Phe329Cys
ENST00000374552.8:c.986T>G	ENSP00000363680.4:p.Phe329Cys
ENST00000374553.6:c.980T>G	ENSP00000363681.2:p.Phe327Cys
ENST00000524573.5:c.971T>G	ENSP00000432585.1:p.Phe324Cys
ENST00000616899.1:c.590T>G	ENSP00000481963.1:p.Phe197Cys
XM_006724630.2:c.977T>G	XP_006724693.1:p.Phe326Cys
XM_017029336.1:c.944T>G	XP_016884825.1:p.Phe315Cys