Canonical Allele Identifier: CA413449247
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 426389
ClinVar RCV Id: RCV000489664 RCV003479140
dbSNP Id: rs1085307599
MyVariant Identifiers: chrX:g.69255214T>C (hg19) chrX:g.70035364T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70035364T>C , CM000685.2:g.70035364T>C GRCh38
NC_000023.10:g.69255214T>C , CM000685.1:g.69255214T>C GRCh37
NC_000023.9:g.69171939T>C NCBI36
NG_009809.1:g.424304T>C
NG_009809.2:g.424298T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.931T>C MANE Select ENSP00000363680.4:p.Tyr311His
ENST00000374552.8:c.931T>C ENSP00000363680.4:p.Tyr311His
ENST00000374553.6:c.925T>C ENSP00000363681.2:p.Tyr309His
ENST00000524573.5:c.916T>C ENSP00000432585.1:p.Tyr306His
ENST00000616899.1:c.535T>C ENSP00000481963.1:p.Tyr179His
NM_001005609.1:c.925T>C NP_001005609.1:p.Tyr309His
NM_001005612.2:c.916T>C NP_001005612.2:p.Tyr306His
NM_001399.4:c.931T>C NP_001390.1:p.Tyr311His
XM_006724630.2:c.922T>C XP_006724693.1:p.Tyr308His
XM_017029336.1:c.889T>C XP_016884825.1:p.Tyr297His
NM_001399.5:c.931T>C MANE Select NP_001390.1:p.Tyr311His
NM_001005609.2:c.925T>C NP_001005609.1:p.Tyr309His
NM_001005612.3:c.916T>C NP_001005612.2:p.Tyr306His
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