Canonical Allele Identifier: CA413448825

Gene: EDA

Linked Data

• ClinVar Variation Id: 2417023
• ClinVar RCV Id: RCV003111851
• dbSNP Id: rs387907197
• gnomAD v3: X-70033430-C-G
• gnomAD v4: X-70033430-C-G
• MyVariant Identifiers: chrX:g.69253280C>G (hg19) ; chrX:g.70033430C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033430C>G , CM000685.2:g.70033430C>G	GRCh38
NC_000023.10:g.69253280C>G , CM000685.1:g.69253280C>G	GRCh37
NC_000023.9:g.69170005C>G	NCBI36
NG_009809.1:g.422370C>G
NG_009809.2:g.422364C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.826C>G MANE Select	ENSP00000363680.4:p.Arg276Gly
ENST00000374552.8:c.826C>G	ENSP00000363680.4:p.Arg276Gly
ENST00000374553.6:c.826C>G	ENSP00000363681.2:p.Arg276Gly
ENST00000524573.5:c.817C>G	ENSP00000432585.1:p.Arg273Gly
ENST00000616899.1:c.430C>G	ENSP00000481963.1:p.Arg144Gly
NM_001005609.1:c.826C>G	NP_001005609.1:p.Arg276Gly
NM_001005612.2:c.817C>G	NP_001005612.2:p.Arg273Gly
NM_001399.4:c.826C>G	NP_001390.1:p.Arg276Gly
XM_006724630.2:c.817C>G	XP_006724693.1:p.Arg273Gly
XM_011530885.1:c.826C>G	XP_011529187.1:p.Arg276Gly
XM_011530885.2:c.826C>G	XP_011529187.1:p.Arg276Gly
XM_017029336.1:c.826C>G	XP_016884825.1:p.Arg276Gly
NM_001399.5:c.826C>G MANE Select	NP_001390.1:p.Arg276Gly
NM_001005609.2:c.826C>G	NP_001005609.1:p.Arg276Gly
NM_001005612.3:c.817C>G	NP_001005612.2:p.Arg273Gly