Canonical Allele Identifier: CA133757

Gene: EDA

Linked Data

• ClinVar Variation Id: 44212
• ClinVar RCV Id: RCV000037190 ; RCV002513473
• dbSNP Id: rs397516678
• MyVariant Identifiers: chrX:g.69253335A>T (hg19) ; chrX:g.70033485A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033485A>T , CM000685.2:g.70033485A>T	GRCh38
NC_000023.10:g.69253335A>T , CM000685.1:g.69253335A>T	GRCh37
NC_000023.9:g.69170060A>T	NCBI36
NG_009809.1:g.422425A>T
NG_009809.2:g.422419A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.881A>T MANE Select	ENSP00000363680.4:p.Glu294Val
ENST00000374552.8:c.881A>T	ENSP00000363680.4:p.Glu294Val
ENST00000374553.6:c.881A>T	ENSP00000363681.2:p.Glu294Val
ENST00000524573.5:c.872A>T	ENSP00000432585.1:p.Glu291Val
ENST00000616899.1:c.485A>T	ENSP00000481963.1:p.Glu162Val
NM_001005609.1:c.881A>T	NP_001005609.1:p.Glu294Val
NM_001005612.2:c.872A>T	NP_001005612.2:p.Glu291Val
NM_001399.4:c.881A>T	NP_001390.1:p.Glu294Val
XM_006724630.2:c.872A>T	XP_006724693.1:p.Glu291Val
XM_011530885.1:c.881A>T	XP_011529187.1:p.Glu294Val
XM_011530885.2:c.881A>T	XP_011529187.1:p.Glu294Val
XM_017029336.1:c.881A>T	XP_016884825.1:p.Glu294Val
NM_001399.5:c.881A>T MANE Select	NP_001390.1:p.Glu294Val
NM_001005609.2:c.881A>T	NP_001005609.1:p.Glu294Val
NM_001005612.3:c.872A>T	NP_001005612.2:p.Glu291Val