Canonical Allele Identifier: CA413449074

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69253376G>A (hg19) ; chrX:g.70033526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033526G>A , CM000685.2:g.70033526G>A	GRCh38
NC_000023.10:g.69253376G>A , CM000685.1:g.69253376G>A	GRCh37
NC_000023.9:g.69170101G>A	NCBI36
NG_009809.1:g.422466G>A
NG_009809.2:g.422460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.922G>A MANE Select	ENSP00000363680.4:p.Glu308Lys
ENST00000374552.8:c.922G>A	ENSP00000363680.4:p.Glu308Lys
ENST00000374553.6:c.918+4G>A	ENSP00000363681.2:n.918+4G>A
ENST00000524573.5:c.909+4G>A	ENSP00000432585.1:n.909+4G>A
ENST00000616899.1:c.526G>A	ENSP00000481963.1:p.Glu176Lys
NM_001005609.1:c.918+4G>A	NP_001005609.1:n.918+4G>A
NM_001005612.2:c.909+4G>A	NP_001005612.2:n.909+4G>A
NM_001399.4:c.922G>A	NP_001390.1:p.Glu308Lys
XM_006724630.2:c.913G>A	XP_006724693.1:p.Glu305Lys
XM_011530885.1:c.918+4G>A	XP_011529187.1:n.918+4G>A
XM_011530885.2:c.918+4G>A	XP_011529187.1:n.918+4G>A
XM_017029336.1:c.882+40G>A	XP_016884825.1:n.882+40G>A
NM_001399.5:c.922G>A MANE Select	NP_001390.1:p.Glu308Lys
NM_001005609.2:c.918+4G>A	NP_001005609.1:n.918+4G>A
NM_001005612.3:c.909+4G>A	NP_001005612.2:n.909+4G>A