Canonical Allele Identifier: CA255655
Gene: EDA HGNC NCBI

Linked Data

ClinVar Variation Id: 11036
dbSNP Id: rs132630313

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69957096C>T , CM000685.2:g.69957096C>T GRCh38
NC_000023.10:g.69176946C>T , CM000685.1:g.69176946C>T GRCh37
NC_000023.9:g.69093671C>T NCBI36
NG_009809.1:g.346036C>T
NG_009809.2:g.346030C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.466C>T MANE Select ENSP00000363680.4:p.Arg156Cys
ENST00000374548.5:n.708C>T
ENST00000374552.8:c.466C>T ENSP00000363680.4:p.Arg156Cys
ENST00000374553.6:c.466C>T ENSP00000363681.2:p.Arg156Cys
ENST00000502251.5:n.759C>T
ENST00000503592.5:c.70C>T ENSP00000423037.1:p.Arg24Cys
ENST00000524573.5:c.466C>T ENSP00000432585.1:p.Arg156Cys
ENST00000533317.5:n.1081C>T
ENST00000616899.1:c.70C>T ENSP00000481963.1:p.Arg24Cys
NM_001005609.1:c.466C>T NP_001005609.1:p.Arg156Cys
NM_001005612.2:c.466C>T NP_001005612.2:p.Arg156Cys
NM_001399.4:c.466C>T NP_001390.1:p.Arg156Cys
XM_006724630.2:c.466C>T XP_006724693.1:p.Arg156Cys
XM_011530885.1:c.466C>T XP_011529187.1:p.Arg156Cys
XM_011530885.2:c.466C>T XP_011529187.1:p.Arg156Cys
XM_017029336.1:c.466C>T XP_016884825.1:p.Arg156Cys
NM_001399.5:c.466C>T MANE Select NP_001390.1:p.Arg156Cys
NM_001005609.2:c.466C>T NP_001005609.1:p.Arg156Cys
NM_001005612.3:c.466C>T NP_001005612.2:p.Arg156Cys