Canonical Allele Identifier: CA133741
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 44185
ClinVar RCV Id: RCV001577971 RCV003335068 RCV003485530
dbSNP Id: rs397516654
gnomAD v2: X-69255377-T-C
gnomAD v3: X-70035527-T-C
gnomAD v4: X-70035527-T-C
MyVariant Identifiers: chrX:g.69255377T>C (hg19) chrX:g.70035527T>C (hg38)
PubMed: PMID:11295832 PMID:12949972 PMID:19623212 PMID:19921643 PMID:21357618 PMID:21457804 PMID:22350046 PMID:23553579 PMID:24664614 PMID:26325558 PMID:26345974
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70035527T>C , CM000685.2:g.70035527T>C GRCh38
NC_000023.10:g.69255377T>C , CM000685.1:g.69255377T>C GRCh37
NC_000023.9:g.69172102T>C NCBI36
NG_009809.1:g.424467T>C
NG_009809.2:g.424461T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.1094T>C MANE Select ENSP00000363680.4:p.Val365Ala
ENST00000374552.8:c.1094T>C ENSP00000363680.4:p.Val365Ala
ENST00000374553.6:c.1088T>C ENSP00000363681.2:p.Val363Ala
ENST00000524573.5:c.1079T>C ENSP00000432585.1:p.Val360Ala
ENST00000616899.1:c.698T>C ENSP00000481963.1:p.Val233Ala
NM_001005609.1:c.1088T>C NP_001005609.1:p.Val363Ala
NM_001005612.2:c.1079T>C NP_001005612.2:p.Val360Ala
NM_001399.4:c.1094T>C NP_001390.1:p.Val365Ala
XM_006724630.2:c.1085T>C XP_006724693.1:p.Val362Ala
XM_017029336.1:c.1052T>C XP_016884825.1:p.Val351Ala
NM_001399.5:c.1094T>C MANE Select NP_001390.1:p.Val365Ala
NM_001005609.2:c.1088T>C NP_001005609.1:p.Val363Ala
NM_001005612.3:c.1079T>C NP_001005612.2:p.Val360Ala
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