Canonical Allele Identifier: CA260052

Gene: EDA

Linked Data

• ClinVar Variation Id: 31908
• ClinVar RCV Id: RCV000024599 ; RCV000626808 ; RCV002262574
• dbSNP Id: rs387907197
• MyVariant Identifiers: chrX:g.69253280C>T (hg19) ; chrX:g.70033430C>T (hg38)
• PubMed: PMID:19921643

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033430C>T , CM000685.2:g.70033430C>T	GRCh38
NC_000023.10:g.69253280C>T , CM000685.1:g.69253280C>T	GRCh37
NC_000023.9:g.69170005C>T	NCBI36
NG_009809.1:g.422370C>T
NG_009809.2:g.422364C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.826C>T MANE Select	ENSP00000363680.4:p.Arg276Cys
ENST00000374552.8:c.826C>T	ENSP00000363680.4:p.Arg276Cys
ENST00000374553.6:c.826C>T	ENSP00000363681.2:p.Arg276Cys
ENST00000524573.5:c.817C>T	ENSP00000432585.1:p.Arg273Cys
ENST00000616899.1:c.430C>T	ENSP00000481963.1:p.Arg144Cys
NM_001005609.1:c.826C>T	NP_001005609.1:p.Arg276Cys
NM_001005612.2:c.817C>T	NP_001005612.2:p.Arg273Cys
NM_001399.4:c.826C>T	NP_001390.1:p.Arg276Cys
XM_006724630.2:c.817C>T	XP_006724693.1:p.Arg273Cys
XM_011530885.1:c.826C>T	XP_011529187.1:p.Arg276Cys
XM_011530885.2:c.826C>T	XP_011529187.1:p.Arg276Cys
XM_017029336.1:c.826C>T	XP_016884825.1:p.Arg276Cys
NM_001399.5:c.826C>T MANE Select	NP_001390.1:p.Arg276Cys
NM_001005609.2:c.826C>T	NP_001005609.1:p.Arg276Cys
NM_001005612.3:c.817C>T	NP_001005612.2:p.Arg273Cys