Canonical Allele Identifier: CA2499226816

Gene: EDA

Linked Data

• ClinVar Variation Id: 1293213
• ClinVar RCV Id: RCV001718264
• dbSNP Id: rs2147516628

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033566G>A , CM000685.2:g.70033566G>A	GRCh38
NC_000023.10:g.69253416G>A , CM000685.1:g.69253416G>A	GRCh37
NC_000023.9:g.69170141G>A	NCBI36
NG_009809.1:g.422506G>A
NG_009809.2:g.422500G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.924+38G>A MANE Select	ENSP00000363680.4:n.924+38G>A
ENST00000374552.8:c.924+38G>A	ENSP00000363680.4:n.924+38G>A
ENST00000374553.6:c.918+44G>A	ENSP00000363681.2:n.918+44G>A
ENST00000524573.5:c.909+44G>A	ENSP00000432585.1:n.909+44G>A
ENST00000616899.1:c.528+38G>A	ENSP00000481963.1:n.528+38G>A
NM_001005609.1:c.918+44G>A	NP_001005609.1:n.918+44G>A
NM_001005612.2:c.909+44G>A	NP_001005612.2:n.909+44G>A
NM_001399.4:c.924+38G>A	NP_001390.1:n.924+38G>A
XM_006724630.2:c.915+38G>A	XP_006724693.1:n.915+38G>A
XM_011530885.1:c.918+44G>A	XP_011529187.1:n.918+44G>A
XM_011530885.2:c.918+44G>A	XP_011529187.1:n.918+44G>A
XM_017029336.1:c.882+80G>A	XP_016884825.1:n.882+80G>A
NM_001399.5:c.924+38G>A MANE Select	NP_001390.1:n.924+38G>A
NM_001005609.2:c.918+44G>A	NP_001005609.1:n.918+44G>A
NM_001005612.3:c.909+44G>A	NP_001005612.2:n.909+44G>A