Canonical Allele Identifier: CA261491

Gene: EDA

Linked Data

• ClinVar Variation Id: 44194
• ClinVar RCV Id: RCV000037172
• dbSNP Id: rs132630314
• MyVariant Identifiers: chrX:g.69176947G>T (hg19) ; chrX:g.69957097G>T (hg38)
• PubMed: PMID:9683615 ; PMID:10951256 ; PMID:11279189 ; PMID:11378824 ; PMID:11416205 ; PMID:18076698 ; PMID:20236127 ; PMID:20979233 ; PMID:21357618 ; PMID:23553579 ; PMID:23744313 ; PMID:24312213

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957097G>T , CM000685.2:g.69957097G>T	GRCh38
NC_000023.10:g.69176947G>T , CM000685.1:g.69176947G>T	GRCh37
NC_000023.9:g.69093672G>T	NCBI36
NG_009809.1:g.346037G>T
NG_009809.2:g.346031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.467G>T MANE Select	ENSP00000363680.4:p.Arg156Leu
ENST00000374548.5:n.709G>T
ENST00000374552.8:c.467G>T	ENSP00000363680.4:p.Arg156Leu
ENST00000374553.6:c.467G>T	ENSP00000363681.2:p.Arg156Leu
ENST00000502251.5:n.760G>T
ENST00000503592.5:c.71G>T	ENSP00000423037.1:p.Arg24Leu
ENST00000524573.5:c.467G>T	ENSP00000432585.1:p.Arg156Leu
ENST00000533317.5:n.1082G>T
ENST00000616899.1:c.71G>T	ENSP00000481963.1:p.Arg24Leu
NM_001005609.1:c.467G>T	NP_001005609.1:p.Arg156Leu
NM_001005612.2:c.467G>T	NP_001005612.2:p.Arg156Leu
NM_001399.4:c.467G>T	NP_001390.1:p.Arg156Leu
XM_006724630.2:c.467G>T	XP_006724693.1:p.Arg156Leu
XM_011530885.1:c.467G>T	XP_011529187.1:p.Arg156Leu
XM_011530885.2:c.467G>T	XP_011529187.1:p.Arg156Leu
XM_017029336.1:c.467G>T	XP_016884825.1:p.Arg156Leu
NM_001399.5:c.467G>T MANE Select	NP_001390.1:p.Arg156Leu
NM_001005609.2:c.467G>T	NP_001005609.1:p.Arg156Leu
NM_001005612.3:c.467G>T	NP_001005612.2:p.Arg156Leu