Canonical Allele Identifier: CA261488
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 44192
ClinVar RCV Id: RCV000037168
dbSNP Id: rs397516661
MyVariant Identifiers: chrX:g.68836499T>A (hg19) chrX:g.69616655T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69616655T>A , CM000685.2:g.69616655T>A GRCh38
NC_000023.10:g.68836499T>A , CM000685.1:g.68836499T>A GRCh37
NC_000023.9:g.68753224T>A NCBI36
NG_009809.1:g.5589T>A
NG_009809.2:g.5589T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.347T>A MANE Select ENSP00000363680.4:p.Leu116Ter
ENST00000338901.4:c.347T>A ENSP00000340611.4:p.Leu116Ter
ENST00000374548.5:n.589T>A
ENST00000374552.8:c.347T>A ENSP00000363680.4:p.Leu116Ter
ENST00000374553.6:c.347T>A ENSP00000363681.2:p.Leu116Ter
ENST00000502251.5:n.589T>A
ENST00000524573.5:c.347T>A ENSP00000432585.1:p.Leu116Ter
ENST00000525810.5:c.347T>A ENSP00000434195.1:p.Leu116Ter
ENST00000527388.5:c.347T>A ENSP00000434861.1:p.Leu116Ter
ENST00000533317.5:n.589T>A
NM_001005609.1:c.347T>A NP_001005609.1:p.Leu116Ter
NM_001005610.3:c.347T>A NP_001005610.2:p.Leu116Ter
NM_001005612.2:c.347T>A NP_001005612.2:p.Leu116Ter
NM_001005613.3:c.347T>A NP_001005613.1:p.Leu116Ter
NM_001399.4:c.347T>A NP_001390.1:p.Leu116Ter
XM_006724630.2:c.347T>A XP_006724693.1:p.Leu116Ter
XM_011530885.1:c.347T>A XP_011529187.1:p.Leu116Ter
XM_011530885.2:c.347T>A XP_011529187.1:p.Leu116Ter
XM_017029336.1:c.347T>A XP_016884825.1:p.Leu116Ter
XM_017029337.1:c.347T>A XP_016884826.1:p.Leu116Ter
XR_001755660.1:n.570T>A
NM_001399.5:c.347T>A MANE Select NP_001390.1:p.Leu116Ter
NM_001005609.2:c.347T>A NP_001005609.1:p.Leu116Ter
NM_001005610.4:c.347T>A NP_001005610.2:p.Leu116Ter
NM_001005612.3:c.347T>A NP_001005612.2:p.Leu116Ter
NM_001005613.4:c.347T>A NP_001005613.1:p.Leu116Ter
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