Canonical Allele Identifier: CA413448779

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033409G>C , CM000685.2:g.70033409G>C	GRCh38
NC_000023.10:g.69253259G>C , CM000685.1:g.69253259G>C	GRCh37
NC_000023.9:g.69169984G>C	NCBI36
NG_009809.1:g.422349G>C
NG_009809.2:g.422343G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.805G>C MANE Select	NP_001390.1:p.Gly269Arg
ENST00000374552.9:c.805G>C MANE Select	ENSP00000363680.4:p.Gly269Arg
NM_001005609.1:c.805G>C	NP_001005609.1:p.Gly269Arg
NM_001005609.2:c.805G>C	NP_001005609.1:p.Gly269Arg
NM_001005612.2:c.796G>C	NP_001005612.2:p.Gly266Arg
NM_001005612.3:c.796G>C	NP_001005612.2:p.Gly266Arg
NM_001399.4:c.805G>C	NP_001390.1:p.Gly269Arg
ENST00000374552.8:c.805G>C	ENSP00000363680.4:p.Gly269Arg
ENST00000374553.6:c.805G>C	ENSP00000363681.2:p.Gly269Arg
ENST00000503592.5:c.409G>C
ENST00000524573.5:c.796G>C	ENSP00000432585.1:p.Gly266Arg
ENST00000616899.1:c.409G>C	ENSP00000481963.1:p.Gly137Arg
XM_006724630.2:c.796G>C	XP_006724693.1:p.Gly266Arg
XM_011530885.1:c.805G>C	XP_011529187.1:p.Gly269Arg
XM_011530885.2:c.805G>C	XP_011529187.1:p.Gly269Arg
XM_017029336.1:c.805G>C	XP_016884825.1:p.Gly269Arg