Canonical Allele Identifier: CA10439020

Gene: EDA

Linked Data

• ClinVar Variation Id: 1566644
• ClinVar RCV Id: RCV002207520
• dbSNP Id: rs746437230
• ExAC: X:69253333 G / A
• gnomAD v2: X-69253333-G-A
• gnomAD v4: X-70033483-G-A
• MyVariant Identifiers: chrX:g.69253333G>A (hg19) ; chrX:g.70033483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033483G>A , CM000685.2:g.70033483G>A	GRCh38
NC_000023.10:g.69253333G>A , CM000685.1:g.69253333G>A	GRCh37
NC_000023.9:g.69170058G>A	NCBI36
NG_009809.1:g.422423G>A
NG_009809.2:g.422417G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.879G>A MANE Select	ENSP00000363680.4:p.Leu293=
ENST00000374552.8:c.879G>A	ENSP00000363680.4:p.Leu293=
ENST00000374553.6:c.879G>A	ENSP00000363681.2:p.Leu293=
ENST00000524573.5:c.870G>A	ENSP00000432585.1:p.Leu290=
ENST00000616899.1:c.483G>A	ENSP00000481963.1:p.Leu161=
NM_001005609.1:c.879G>A	NP_001005609.1:p.Leu293=
NM_001005612.2:c.870G>A	NP_001005612.2:p.Leu290=
NM_001399.4:c.879G>A	NP_001390.1:p.Leu293=
XM_006724630.2:c.870G>A	XP_006724693.1:p.Leu290=
XM_011530885.1:c.879G>A	XP_011529187.1:p.Leu293=
XM_011530885.2:c.879G>A	XP_011529187.1:p.Leu293=
XM_017029336.1:c.879G>A	XP_016884825.1:p.Leu293=
NM_001399.5:c.879G>A MANE Select	NP_001390.1:p.Leu293=
NM_001005609.2:c.879G>A	NP_001005609.1:p.Leu293=
NM_001005612.3:c.870G>A	NP_001005612.2:p.Leu290=