Canonical Allele Identifier: CA133741

Gene: EDA

Linked Data

• ClinVar Variation Id: 44185
• ClinVar RCV Id: RCV000037161 ; RCV000542700 ; RCV000624502 ; RCV001577971 ; RCV003485530 ; RCV004545739
• 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

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