Canonical Allele Identifier: CA273640
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 179641
ClinVar RCV Id: RCV000156436
dbSNP Id: rs727505013
MyVariant Identifiers: chrX:g.69176983G>A (hg19) chrX:g.69957133G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69957133G>A , CM000685.2:g.69957133G>A GRCh38
NC_000023.10:g.69176983G>A , CM000685.1:g.69176983G>A GRCh37
NC_000023.9:g.69093708G>A NCBI36
NG_009809.1:g.346073G>A
NG_009809.2:g.346067G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.502+1G>A MANE Select ENSP00000363680.4:n.502+1G>A
ENST00000374548.5:n.745G>A
ENST00000374552.8:c.502+1G>A ENSP00000363680.4:n.502+1G>A
ENST00000374553.6:c.502+1G>A ENSP00000363681.2:n.502+1G>A
ENST00000502251.5:n.796G>A
ENST00000503592.5:c.106+1G>A ENSP00000423037.1:n.106+1G>A
ENST00000524573.5:c.502+1G>A ENSP00000432585.1:n.502+1G>A
ENST00000533317.5:n.1118G>A
ENST00000616899.1:c.106+1G>A ENSP00000481963.1:n.106+1G>A
NM_001005609.1:c.502+1G>A NP_001005609.1:n.502+1G>A
NM_001005612.2:c.502+1G>A NP_001005612.2:n.502+1G>A
NM_001399.4:c.502+1G>A NP_001390.1:n.502+1G>A
XM_006724630.2:c.502+1G>A XP_006724693.1:n.502+1G>A
XM_011530885.1:c.502+1G>A XP_011529187.1:n.502+1G>A
XM_011530885.2:c.502+1G>A XP_011529187.1:n.502+1G>A
XM_017029336.1:c.502+1G>A XP_016884825.1:n.502+1G>A
NM_001399.5:c.502+1G>A MANE Select NP_001390.1:n.502+1G>A
NM_001005609.2:c.502+1G>A NP_001005609.1:n.502+1G>A
NM_001005612.3:c.502+1G>A NP_001005612.2:n.502+1G>A
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