Canonical Allele Identifier: CA413449530

Gene: EDA

Linked Data

• ClinVar Variation Id: 458662
• ClinVar RCV Id: RCV000555399
• dbSNP Id: rs1556110308
• MyVariant Identifiers: chrX:g.69255253G>A (hg19) ; chrX:g.70035403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035403G>A , CM000685.2:g.70035403G>A	GRCh38
NC_000023.10:g.69255253G>A , CM000685.1:g.69255253G>A	GRCh37
NC_000023.9:g.69171978G>A	NCBI36
NG_009809.1:g.424343G>A
NG_009809.2:g.424337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.970G>A MANE Select	ENSP00000363680.4:p.Val324Met
ENST00000374552.8:c.970G>A	ENSP00000363680.4:p.Val324Met
ENST00000374553.6:c.964G>A	ENSP00000363681.2:p.Val322Met
ENST00000524573.5:c.955G>A	ENSP00000432585.1:p.Val319Met
ENST00000616899.1:c.574G>A	ENSP00000481963.1:p.Val192Met
NM_001005609.1:c.964G>A	NP_001005609.1:p.Val322Met
NM_001005612.2:c.955G>A	NP_001005612.2:p.Val319Met
NM_001399.4:c.970G>A	NP_001390.1:p.Val324Met
XM_006724630.2:c.961G>A	XP_006724693.1:p.Val321Met
XM_017029336.1:c.928G>A	XP_016884825.1:p.Val310Met
NM_001399.5:c.970G>A MANE Select	NP_001390.1:p.Val324Met
NM_001005609.2:c.964G>A	NP_001005609.1:p.Val322Met
NM_001005612.3:c.955G>A	NP_001005612.2:p.Val319Met