Canonical Allele Identifier: CA10577177

Gene: EDA

Linked Data

• ClinVar Variation Id: 228257
• ClinVar RCV Id: RCV000223248 ; RCV001054886 ; RCV001248822 ; RCV003317157 ; RCV003886387
• dbSNP Id: rs876657641
• gnomAD v4: X-70033470-G-A
• MyVariant Identifiers: chrX:g.69253320G>A (hg19) ; chrX:g.70033470G>A (hg38)
• PubMed: PMID:19278982 ; PMID:24487376

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033470G>A , CM000685.2:g.70033470G>A	GRCh38
NC_000023.10:g.69253320G>A , CM000685.1:g.69253320G>A	GRCh37
NC_000023.9:g.69170045G>A	NCBI36
NG_009809.1:g.422410G>A
NG_009809.2:g.422404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.866G>A MANE Select	ENSP00000363680.4:p.Arg289His
ENST00000374552.8:c.866G>A	ENSP00000363680.4:p.Arg289His
ENST00000374553.6:c.866G>A	ENSP00000363681.2:p.Arg289His
ENST00000524573.5:c.857G>A	ENSP00000432585.1:p.Arg286His
ENST00000616899.1:c.470G>A	ENSP00000481963.1:p.Arg157His
NM_001005609.1:c.866G>A	NP_001005609.1:p.Arg289His
NM_001005612.2:c.857G>A	NP_001005612.2:p.Arg286His
NM_001399.4:c.866G>A	NP_001390.1:p.Arg289His
XM_006724630.2:c.857G>A	XP_006724693.1:p.Arg286His
XM_011530885.1:c.866G>A	XP_011529187.1:p.Arg289His
XM_011530885.2:c.866G>A	XP_011529187.1:p.Arg289His
XM_017029336.1:c.866G>A	XP_016884825.1:p.Arg289His
NM_001399.5:c.866G>A MANE Select	NP_001390.1:p.Arg289His
NM_001005609.2:c.866G>A	NP_001005609.1:p.Arg289His
NM_001005612.3:c.857G>A	NP_001005612.2:p.Arg286His