Canonical Allele Identifier: CA273640

Gene: EDA

Linked Data

• ClinVar Variation Id: 179641
• ClinVar RCV Id: RCV000156436
• dbSNP Id: rs727505013
• MyVariant Identifiers: chrX:g.69176983G>A (hg19) ; chrX:g.69957133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957133G>A , CM000685.2:g.69957133G>A	GRCh38
NC_000023.10:g.69176983G>A , CM000685.1:g.69176983G>A	GRCh37
NC_000023.9:g.69093708G>A	NCBI36
NG_009809.1:g.346073G>A
NG_009809.2:g.346067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.502+1G>A MANE Select	ENSP00000363680.4:n.502+1G>A
ENST00000374548.5:n.745G>A
ENST00000374552.8:c.502+1G>A	ENSP00000363680.4:n.502+1G>A
ENST00000374553.6:c.502+1G>A	ENSP00000363681.2:n.502+1G>A
ENST00000502251.5:n.796G>A
ENST00000503592.5:c.106+1G>A	ENSP00000423037.1:n.106+1G>A
ENST00000524573.5:c.502+1G>A	ENSP00000432585.1:n.502+1G>A
ENST00000533317.5:n.1118G>A
ENST00000616899.1:c.106+1G>A	ENSP00000481963.1:n.106+1G>A
NM_001005609.1:c.502+1G>A	NP_001005609.1:n.502+1G>A
NM_001005612.2:c.502+1G>A	NP_001005612.2:n.502+1G>A
NM_001399.4:c.502+1G>A	NP_001390.1:n.502+1G>A
XM_006724630.2:c.502+1G>A	XP_006724693.1:n.502+1G>A
XM_011530885.1:c.502+1G>A	XP_011529187.1:n.502+1G>A
XM_011530885.2:c.502+1G>A	XP_011529187.1:n.502+1G>A
XM_017029336.1:c.502+1G>A	XP_016884825.1:n.502+1G>A
NM_001399.5:c.502+1G>A MANE Select	NP_001390.1:n.502+1G>A
NM_001005609.2:c.502+1G>A	NP_001005609.1:n.502+1G>A
NM_001005612.3:c.502+1G>A	NP_001005612.2:n.502+1G>A