Canonical Allele Identifier: CA261505

Gene: EDA

Linked Data

• ClinVar Variation Id: 44209
• ClinVar RCV Id: RCV000037187
• dbSNP Id: rs397516675
• MyVariant Identifiers: chrX:g.69253276G>T (hg19) ; chrX:g.70033426G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.822G>T MANE Select	ENSP00000363680.4:p.Trp274Cys
ENST00000374552.8:c.822G>T	ENSP00000363680.4:p.Trp274Cys
ENST00000374553.6:c.822G>T	ENSP00000363681.2:p.Trp274Cys
ENST00000524573.5:c.813G>T	ENSP00000432585.1:p.Trp271Cys
ENST00000616899.1:c.426G>T	ENSP00000481963.1:p.Trp142Cys
NM_001005609.1:c.822G>T	NP_001005609.1:p.Trp274Cys
NM_001005612.2:c.813G>T	NP_001005612.2:p.Trp271Cys
NM_001399.4:c.822G>T	NP_001390.1:p.Trp274Cys
XM_006724630.2:c.813G>T	XP_006724693.1:p.Trp271Cys
XM_011530885.1:c.822G>T	XP_011529187.1:p.Trp274Cys
XM_011530885.2:c.822G>T	XP_011529187.1:p.Trp274Cys
XM_017029336.1:c.822G>T	XP_016884825.1:p.Trp274Cys
NM_001399.5:c.822G>T MANE Select	NP_001390.1:p.Trp274Cys
NM_001005609.2:c.822G>T	NP_001005609.1:p.Trp274Cys
NM_001005612.3:c.813G>T	NP_001005612.2:p.Trp271Cys