Canonical Allele Identifier: CA2740053693

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957149G>C , CM000685.2:g.69957149G>C	GRCh38
NC_000023.10:g.69176999G>C , CM000685.1:g.69176999G>C	GRCh37
NC_000023.9:g.69093724G>C	NCBI36
NG_009809.1:g.346089G>C
NG_009809.2:g.346083G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.502+17G>C MANE Select	ENSP00000363680.4:n.502+17G>C
ENST00000374548.5:n.761G>C
ENST00000374552.8:c.502+17G>C	ENSP00000363680.4:n.502+17G>C
ENST00000374553.6:c.502+17G>C	ENSP00000363681.2:n.502+17G>C
ENST00000502251.5:n.812G>C
ENST00000503592.5:c.106+17G>C	ENSP00000423037.1:n.106+17G>C
ENST00000524573.5:c.502+17G>C	ENSP00000432585.1:n.502+17G>C
ENST00000533317.5:n.1134G>C
ENST00000616899.1:c.106+17G>C	ENSP00000481963.1:n.106+17G>C
NM_001005609.1:c.502+17G>C	NP_001005609.1:n.502+17G>C
NM_001005612.2:c.502+17G>C	NP_001005612.2:n.502+17G>C
NM_001399.4:c.502+17G>C	NP_001390.1:n.502+17G>C
XM_006724630.2:c.502+17G>C	XP_006724693.1:n.502+17G>C
XM_011530885.1:c.502+17G>C	XP_011529187.1:n.502+17G>C
XM_011530885.2:c.502+17G>C	XP_011529187.1:n.502+17G>C
XM_017029336.1:c.502+17G>C	XP_016884825.1:n.502+17G>C
NM_001399.5:c.502+17G>C MANE Select	NP_001390.1:n.502+17G>C
NM_001005609.2:c.502+17G>C	NP_001005609.1:n.502+17G>C
NM_001005612.3:c.502+17G>C	NP_001005612.2:n.502+17G>C