Canonical Allele Identifier: CA10577181

Gene: EDA

Linked Data

• ClinVar Variation Id: 228255
• ClinVar RCV Id: RCV000809933
• dbSNP Id: rs876657639
• MyVariant Identifiers: chrX:g.69255350C>T (hg19) ; chrX:g.70035500C>T (hg38)
• PubMed: PMID:9683615 ; PMID:20236127 ; PMID:20979233

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035500C>T , CM000685.2:g.70035500C>T	GRCh38
NC_000023.10:g.69255350C>T , CM000685.1:g.69255350C>T	GRCh37
NC_000023.9:g.69172075C>T	NCBI36
NG_009809.1:g.424440C>T
NG_009809.2:g.424434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.1067C>T MANE Select	ENSP00000363680.4:p.Ala356Val
ENST00000374552.8:c.1067C>T	ENSP00000363680.4:p.Ala356Val
ENST00000374553.6:c.1061C>T	ENSP00000363681.2:p.Ala354Val
ENST00000524573.5:c.1052C>T	ENSP00000432585.1:p.Ala351Val
ENST00000616899.1:c.671C>T	ENSP00000481963.1:p.Ala224Val
NM_001005609.1:c.1061C>T	NP_001005609.1:p.Ala354Val
NM_001005612.2:c.1052C>T	NP_001005612.2:p.Ala351Val
NM_001399.4:c.1067C>T	NP_001390.1:p.Ala356Val
XM_006724630.2:c.1058C>T	XP_006724693.1:p.Ala353Val
XM_017029336.1:c.1025C>T	XP_016884825.1:p.Ala342Val
NM_001399.5:c.1067C>T MANE Select	NP_001390.1:p.Ala356Val
NM_001005609.2:c.1061C>T	NP_001005609.1:p.Ala354Val
NM_001005612.3:c.1052C>T	NP_001005612.2:p.Ala351Val