Canonical Allele Identifier: CA255655

Gene: EDA

Linked Data

• ClinVar Variation Id: 11036
• ClinVar RCV Id: RCV000011783 ; RCV000414306 ; RCV003390668
• dbSNP Id: rs132630313
• COSMIC: COSM5642432 ; COSM5642433
• MyVariant Identifiers: chrX:g.69176946C>T (hg19) ; chrX:g.69957096C>T (hg38)
• PubMed: PMID:9683615

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