Canonical Allele Identifier: CA273144

Gene: EDA

Linked Data

• ClinVar Variation Id: 163321
• ClinVar RCV Id: RCV000150600
• dbSNP Id: rs397516675
• MyVariant Identifiers: chrX:g.69253276G>A (hg19) ; chrX:g.70033426G>A (hg38)
• PubMed: PMID:11279189 ; PMID:11295832

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033426G>A , CM000685.2:g.70033426G>A	GRCh38
NC_000023.10:g.69253276G>A , CM000685.1:g.69253276G>A	GRCh37
NC_000023.9:g.69170001G>A	NCBI36
NG_009809.1:g.422366G>A
NG_009809.2:g.422360G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.822G>A MANE Select	ENSP00000363680.4:p.Trp274Ter
ENST00000374552.8:c.822G>A	ENSP00000363680.4:p.Trp274Ter
ENST00000374553.6:c.822G>A	ENSP00000363681.2:p.Trp274Ter
ENST00000524573.5:c.813G>A	ENSP00000432585.1:p.Trp271Ter
ENST00000616899.1:c.426G>A	ENSP00000481963.1:p.Trp142Ter
NM_001005609.1:c.822G>A	NP_001005609.1:p.Trp274Ter
NM_001005612.2:c.813G>A	NP_001005612.2:p.Trp271Ter
NM_001399.4:c.822G>A	NP_001390.1:p.Trp274Ter
XM_006724630.2:c.813G>A	XP_006724693.1:p.Trp271Ter
XM_011530885.1:c.822G>A	XP_011529187.1:p.Trp274Ter
XM_011530885.2:c.822G>A	XP_011529187.1:p.Trp274Ter
XM_017029336.1:c.822G>A	XP_016884825.1:p.Trp274Ter
NM_001399.5:c.822G>A MANE Select	NP_001390.1:p.Trp274Ter
NM_001005609.2:c.822G>A	NP_001005609.1:p.Trp274Ter
NM_001005612.3:c.813G>A	NP_001005612.2:p.Trp271Ter