Canonical Allele Identifier: CA2693980300

Gene: EDA

Linked Data

• gnomAD v4: X-70033581-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033581G>C , CM000685.2:g.70033581G>C	GRCh38
NC_000023.10:g.69253431G>C , CM000685.1:g.69253431G>C	GRCh37
NC_000023.9:g.69170156G>C	NCBI36
NG_009809.1:g.422521G>C
NG_009809.2:g.422515G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.924+53G>C MANE Select	ENSP00000363680.4:n.924+53G>C
ENST00000374552.8:c.924+53G>C	ENSP00000363680.4:n.924+53G>C
ENST00000374553.6:c.918+59G>C	ENSP00000363681.2:n.918+59G>C
ENST00000524573.5:c.909+59G>C	ENSP00000432585.1:n.909+59G>C
ENST00000616899.1:c.528+53G>C	ENSP00000481963.1:n.528+53G>C
NM_001005609.1:c.918+59G>C	NP_001005609.1:n.918+59G>C
NM_001005612.2:c.909+59G>C	NP_001005612.2:n.909+59G>C
NM_001399.4:c.924+53G>C	NP_001390.1:n.924+53G>C
XM_006724630.2:c.915+53G>C	XP_006724693.1:n.915+53G>C
XM_011530885.1:c.918+59G>C	XP_011529187.1:n.918+59G>C
XM_011530885.2:c.918+59G>C	XP_011529187.1:n.918+59G>C
XM_017029336.1:c.882+95G>C	XP_016884825.1:n.882+95G>C
NM_001399.5:c.924+53G>C MANE Select	NP_001390.1:n.924+53G>C
NM_001005609.2:c.918+59G>C	NP_001005609.1:n.918+59G>C
NM_001005612.3:c.909+59G>C	NP_001005612.2:n.909+59G>C