Canonical Allele Identifier: CA261508
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 44211
ClinVar RCV Id: RCV000037189 RCV000256153
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
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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
Search 100 bp 5'
Search 100 bp 3'