Canonical Allele Identifier: CA10588796

Gene: EDA

Linked Data

• ClinVar Variation Id: 265107
• ClinVar RCV Id: RCV000256169 ; RCV000525670
• dbSNP Id: rs886039344
• gnomAD v4: X-70028037-G-A
• MyVariant Identifiers: chrX:g.69247887G>A (hg19) ; chrX:g.70028037G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70028037G>A , CM000685.2:g.70028037G>A	GRCh38
NC_000023.10:g.69247887G>A , CM000685.1:g.69247887G>A	GRCh37
NC_000023.9:g.69164612G>A	NCBI36
NG_009809.1:g.416977G>A
NG_009809.2:g.416971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.706+1G>A MANE Select	ENSP00000363680.4:n.706+1G>A
ENST00000374552.8:c.706+1G>A	ENSP00000363680.4:n.706+1G>A
ENST00000374553.6:c.706+1G>A	ENSP00000363681.2:n.706+1G>A
ENST00000503592.5:c.310+1G>A	ENSP00000423037.1:n.310+1G>A
ENST00000524573.5:c.706+1G>A	ENSP00000432585.1:n.706+1G>A
ENST00000616899.1:c.310+1G>A	ENSP00000481963.1:n.310+1G>A
NM_001005609.1:c.706+1G>A	NP_001005609.1:n.706+1G>A
NM_001005612.2:c.706+1G>A	NP_001005612.2:n.706+1G>A
NM_001399.4:c.706+1G>A	NP_001390.1:n.706+1G>A
XM_006724630.2:c.706+1G>A	XP_006724693.1:n.706+1G>A
XM_011530885.1:c.706+1G>A	XP_011529187.1:n.706+1G>A
XM_011530885.2:c.706+1G>A	XP_011529187.1:n.706+1G>A
XM_017029336.1:c.706+1G>A	XP_016884825.1:n.706+1G>A
NM_001399.5:c.706+1G>A MANE Select	NP_001390.1:n.706+1G>A
NM_001005609.2:c.706+1G>A	NP_001005609.1:n.706+1G>A
NM_001005612.3:c.706+1G>A	NP_001005612.2:n.706+1G>A