Canonical Allele Identifier: CA2435857879

Gene: EDA

Linked Data

• dbSNP Id: rs5936487

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69673072G>C , CM000685.2:g.69673072G>C	GRCh38
NC_000023.10:g.68892916G>C , CM000685.1:g.68892916G>C	GRCh37
NC_000023.9:g.68809641G>C	NCBI36
NG_009809.1:g.62006G>C
NG_009809.2:g.62006G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.396+56368G>C MANE Select	ENSP00000363680.4:n.396+56368G>C
ENST00000374548.5:n.638+56368G>C
ENST00000374552.8:c.396+56368G>C	ENSP00000363680.4:n.396+56368G>C
ENST00000374553.6:c.396+56368G>C	ENSP00000363681.2:n.396+56368G>C
ENST00000502251.5:n.689+52126G>C
ENST00000503592.5:c.-1+52126G>C	ENSP00000423037.1:n.-1+52126G>C
ENST00000510681.2:n.129-14541G>C
ENST00000524573.5:c.396+56368G>C	ENSP00000432585.1:n.396+56368G>C
ENST00000525810.5:c.396+56368G>C	ENSP00000434195.1:n.396+56368G>C
ENST00000527388.5:c.*33+2779G>C	ENSP00000434861.1:n.*33+2779G>C
ENST00000530321.1:n.134+2779G>C
ENST00000533317.5:n.639-56071G>C
NM_001005609.1:c.396+56368G>C	NP_001005609.1:n.396+56368G>C
NM_001005610.3:c.396+56368G>C	NP_001005610.2:n.396+56368G>C
NM_001005612.2:c.396+56368G>C	NP_001005612.2:n.396+56368G>C
NM_001005613.3:c.*33+2779G>C	NP_001005613.1:n.*33+2779G>C
NM_001399.4:c.396+56368G>C	NP_001390.1:n.396+56368G>C
XM_006724630.2:c.396+56368G>C	XP_006724693.1:n.396+56368G>C
XM_011530885.1:c.396+56368G>C	XP_011529187.1:n.396+56368G>C
XM_011530885.2:c.396+56368G>C	XP_011529187.1:n.396+56368G>C
XM_017029336.1:c.396+56368G>C	XP_016884825.1:n.396+56368G>C
NM_001399.5:c.396+56368G>C MANE Select	NP_001390.1:n.396+56368G>C
NM_001005609.2:c.396+56368G>C	NP_001005609.1:n.396+56368G>C
NM_001005610.4:c.396+56368G>C	NP_001005610.2:n.396+56368G>C
NM_001005612.3:c.396+56368G>C	NP_001005612.2:n.396+56368G>C
NM_001005613.4:c.*33+2779G>C	NP_001005613.1:n.*33+2779G>C