Canonical Allele Identifier: CA261508

Gene: EDA

Linked Data

• ClinVar Variation Id: 44211
• ClinVar RCV Id: RCV000037189 ; RCV000256153 ; RCV003398602
• dbSNP Id: rs397516677
• gnomAD v4: X-70033475-G-A
• MyVariant Identifiers: chrX:g.69253325G>A (hg19) ; chrX:g.70033475G>A (hg38)
• PubMed: PMID:9736768 ; PMID:11279189 ; PMID:15663448 ; PMID:20979233 ; PMID:21357618

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033475G>A , CM000685.2:g.70033475G>A	GRCh38
NC_000023.10:g.69253325G>A , CM000685.1:g.69253325G>A	GRCh37
NC_000023.9:g.69170050G>A	NCBI36
NG_009809.1:g.422415G>A
NG_009809.2:g.422409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.871G>A MANE Select	ENSP00000363680.4:p.Gly291Arg
ENST00000374552.8:c.871G>A	ENSP00000363680.4:p.Gly291Arg
ENST00000374553.6:c.871G>A	ENSP00000363681.2:p.Gly291Arg
ENST00000524573.5:c.862G>A	ENSP00000432585.1:p.Gly288Arg
ENST00000616899.1:c.475G>A	ENSP00000481963.1:p.Gly159Arg
NM_001005609.1:c.871G>A	NP_001005609.1:p.Gly291Arg
NM_001005612.2:c.862G>A	NP_001005612.2:p.Gly288Arg
NM_001399.4:c.871G>A	NP_001390.1:p.Gly291Arg
XM_006724630.2:c.862G>A	XP_006724693.1:p.Gly288Arg
XM_011530885.1:c.871G>A	XP_011529187.1:p.Gly291Arg
XM_011530885.2:c.871G>A	XP_011529187.1:p.Gly291Arg
XM_017029336.1:c.871G>A	XP_016884825.1:p.Gly291Arg
NM_001399.5:c.871G>A MANE Select	NP_001390.1:p.Gly291Arg
NM_001005609.2:c.871G>A	NP_001005609.1:p.Gly291Arg
NM_001005612.3:c.862G>A	NP_001005612.2:p.Gly288Arg