Canonical Allele Identifier: CA261510
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 44215
ClinVar RCV Id: RCV000037193
dbSNP Id: rs397516681
MyVariant Identifiers: chrX:g.69253356A>G (hg19) chrX:g.70033506A>G (hg38)
PubMed: PMID:11378824 PMID:21457804
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70033506A>G , CM000685.2:g.70033506A>G GRCh38
NC_000023.10:g.69253356A>G , CM000685.1:g.69253356A>G GRCh37
NC_000023.9:g.69170081A>G NCBI36
NG_009809.1:g.422446A>G
NG_009809.2:g.422440A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.902A>G MANE Select ENSP00000363680.4:p.Tyr301Cys
ENST00000374552.8:c.902A>G ENSP00000363680.4:p.Tyr301Cys
ENST00000374553.6:c.902A>G ENSP00000363681.2:p.Tyr301Cys
ENST00000524573.5:c.893A>G ENSP00000432585.1:p.Tyr298Cys
ENST00000616899.1:c.506A>G ENSP00000481963.1:p.Tyr169Cys
NM_001005609.1:c.902A>G NP_001005609.1:p.Tyr301Cys
NM_001005612.2:c.893A>G NP_001005612.2:p.Tyr298Cys
NM_001399.4:c.902A>G NP_001390.1:p.Tyr301Cys
XM_006724630.2:c.893A>G XP_006724693.1:p.Tyr298Cys
XM_011530885.1:c.902A>G XP_011529187.1:p.Tyr301Cys
XM_011530885.2:c.902A>G XP_011529187.1:p.Tyr301Cys
XM_017029336.1:c.882+20A>G XP_016884825.1:n.882+20A>G
NM_001399.5:c.902A>G MANE Select NP_001390.1:p.Tyr301Cys
NM_001005609.2:c.902A>G NP_001005609.1:p.Tyr301Cys
NM_001005612.3:c.893A>G NP_001005612.2:p.Tyr298Cys
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