Canonical Allele Identifier: CA517012831

Gene: EDA

Linked Data

• ClinVar Variation Id: 528357
• ClinVar RCV Id: RCV000633505
• dbSNP Id: rs886042183
• MyVariant Identifiers: chrX:g.69249388G>A (hg19) ; chrX:g.70029538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70029538G>A , CM000685.2:g.70029538G>A	GRCh38
NC_000023.10:g.69249388G>A , CM000685.1:g.69249388G>A	GRCh37
NC_000023.9:g.69166113G>A	NCBI36
NG_009809.1:g.418478G>A
NG_009809.2:g.418472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.741G>A MANE Select	ENSP00000363680.4:p.Gln247=
ENST00000374552.8:c.741G>A	ENSP00000363680.4:p.Gln247=
ENST00000374553.6:c.741G>A	ENSP00000363681.2:p.Gln247=
ENST00000503592.5:c.345G>A	ENSP00000423037.1:p.Gln115=
ENST00000524573.5:c.741G>A	ENSP00000432585.1:p.Gln247=
ENST00000616899.1:c.345G>A	ENSP00000481963.1:p.Gln115=
NM_001005609.1:c.741G>A	NP_001005609.1:p.Gln247=
NM_001005612.2:c.741G>A	NP_001005612.2:p.Gln247=
NM_001399.4:c.741G>A	NP_001390.1:p.Gln247=
XM_006724630.2:c.741G>A	XP_006724693.1:p.Gln247=
XM_011530885.1:c.741G>A	XP_011529187.1:p.Gln247=
XM_011530885.2:c.741G>A	XP_011529187.1:p.Gln247=
XM_017029336.1:c.741G>A	XP_016884825.1:p.Gln247=
NM_001399.5:c.741G>A MANE Select	NP_001390.1:p.Gln247=
NM_001005609.2:c.741G>A	NP_001005609.1:p.Gln247=
NM_001005612.3:c.741G>A	NP_001005612.2:p.Gln247=