Canonical Allele Identifier: CA184075

Gene: EDA

Linked Data

• ClinVar Variation Id: 179264
• ClinVar RCV Id: RCV000156051 ; RCV000796602
• dbSNP Id: rs727504750
• MyVariant Identifiers: chrX:g.69253248A>G (hg19) ; chrX:g.70033398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033398A>G , CM000685.2:g.70033398A>G	GRCh38
NC_000023.10:g.69253248A>G , CM000685.1:g.69253248A>G	GRCh37
NC_000023.9:g.69169973A>G	NCBI36
NG_009809.1:g.422338A>G
NG_009809.2:g.422332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.794A>G MANE Select	ENSP00000363680.4:p.Asp265Gly
ENST00000374552.8:c.794A>G	ENSP00000363680.4:p.Asp265Gly
ENST00000374553.6:c.794A>G	ENSP00000363681.2:p.Asp265Gly
ENST00000503592.5:c.398A>G	ENSP00000423037.1:p.Asp133Gly
ENST00000524573.5:c.794-9A>G	ENSP00000432585.1:n.794-9A>G
ENST00000616899.1:c.398A>G	ENSP00000481963.1:p.Asp133Gly
NM_001005609.1:c.794A>G	NP_001005609.1:p.Asp265Gly
NM_001005612.2:c.794-9A>G	NP_001005612.2:n.794-9A>G
NM_001399.4:c.794A>G	NP_001390.1:p.Asp265Gly
XM_006724630.2:c.794-9A>G	XP_006724693.1:n.794-9A>G
XM_011530885.1:c.794A>G	XP_011529187.1:p.Asp265Gly
XM_011530885.2:c.794A>G	XP_011529187.1:p.Asp265Gly
XM_017029336.1:c.794A>G	XP_016884825.1:p.Asp265Gly
NM_001399.5:c.794A>G MANE Select	NP_001390.1:p.Asp265Gly
NM_001005609.2:c.794A>G	NP_001005609.1:p.Asp265Gly
NM_001005612.3:c.794-9A>G	NP_001005612.2:n.794-9A>G