Canonical Allele Identifier: CA273588

Gene: EDA

Linked Data

• ClinVar Variation Id: 179127
• ClinVar RCV Id: RCV000155912
• dbSNP Id: rs727504649
• MyVariant Identifiers: chrX:g.69176954A>C (hg19) ; chrX:g.69957104A>C (hg38)
• PubMed: PMID:11279189 ; PMID:11416205 ; PMID:12949972

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957104A>C , CM000685.2:g.69957104A>C	GRCh38
NC_000023.10:g.69176954A>C , CM000685.1:g.69176954A>C	GRCh37
NC_000023.9:g.69093679A>C	NCBI36
NG_009809.1:g.346044A>C
NG_009809.2:g.346038A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.474A>C MANE Select	ENSP00000363680.4:p.Lys158Asn
ENST00000374548.5:n.716A>C
ENST00000374552.8:c.474A>C	ENSP00000363680.4:p.Lys158Asn
ENST00000374553.6:c.474A>C	ENSP00000363681.2:p.Lys158Asn
ENST00000502251.5:n.767A>C
ENST00000503592.5:c.78A>C	ENSP00000423037.1:p.Lys26Asn
ENST00000524573.5:c.474A>C	ENSP00000432585.1:p.Lys158Asn
ENST00000533317.5:n.1089A>C
ENST00000616899.1:c.78A>C	ENSP00000481963.1:p.Lys26Asn
NM_001005609.1:c.474A>C	NP_001005609.1:p.Lys158Asn
NM_001005612.2:c.474A>C	NP_001005612.2:p.Lys158Asn
NM_001399.4:c.474A>C	NP_001390.1:p.Lys158Asn
XM_006724630.2:c.474A>C	XP_006724693.1:p.Lys158Asn
XM_011530885.1:c.474A>C	XP_011529187.1:p.Lys158Asn
XM_011530885.2:c.474A>C	XP_011529187.1:p.Lys158Asn
XM_017029336.1:c.474A>C	XP_016884825.1:p.Lys158Asn
NM_001399.5:c.474A>C MANE Select	NP_001390.1:p.Lys158Asn
NM_001005609.2:c.474A>C	NP_001005609.1:p.Lys158Asn
NM_001005612.3:c.474A>C	NP_001005612.2:p.Lys158Asn