Canonical Allele Identifier: CA330947483

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957103A>G , CM000685.2:g.69957103A>G	GRCh38
NC_000023.10:g.69176953A>G , CM000685.1:g.69176953A>G	GRCh37
NC_000023.9:g.69093678A>G	NCBI36
NG_009809.1:g.346043A>G
NG_009809.2:g.346037A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.473A>G MANE Select	NP_001390.1:p.Lys158Arg
ENST00000374552.9:c.473A>G MANE Select	ENSP00000363680.4:p.Lys158Arg
NM_001005609.1:c.473A>G	NP_001005609.1:p.Lys158Arg
NM_001005609.2:c.473A>G	NP_001005609.1:p.Lys158Arg
NM_001005612.2:c.473A>G	NP_001005612.2:p.Lys158Arg
NM_001005612.3:c.473A>G	NP_001005612.2:p.Lys158Arg
NM_001399.4:c.473A>G	NP_001390.1:p.Lys158Arg
ENST00000374548.5:n.715A>G
ENST00000374552.8:c.473A>G	ENSP00000363680.4:p.Lys158Arg
ENST00000374553.6:c.473A>G	ENSP00000363681.2:p.Lys158Arg
ENST00000502251.5:n.766A>G
ENST00000503592.5:c.77A>G	ENSP00000423037.1:p.Lys26Arg
ENST00000524573.5:c.473A>G	ENSP00000432585.1:p.Lys158Arg
ENST00000533317.5:n.1088A>G
ENST00000616899.1:c.77A>G	ENSP00000481963.1:p.Lys26Arg
XM_006724630.2:c.473A>G	XP_006724693.1:p.Lys158Arg
XM_011530885.1:c.473A>G	XP_011529187.1:p.Lys158Arg
XM_011530885.2:c.473A>G	XP_011529187.1:p.Lys158Arg
XM_017029336.1:c.473A>G	XP_016884825.1:p.Lys158Arg