Canonical Allele Identifier: CA261509

Gene: EDA

Linked Data

• ClinVar Variation Id: 44213
• ClinVar RCV Id: RCV000037191 ; RCV001778676
• dbSNP Id: rs397516679
• MyVariant Identifiers: chrX:g.69253349G>A (hg19) ; chrX:g.70033499G>A (hg38)
• PubMed: PMID:9683615 ; PMID:9736768 ; PMID:14656435

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033499G>A , CM000685.2:g.70033499G>A	GRCh38
NC_000023.10:g.69253349G>A , CM000685.1:g.69253349G>A	GRCh37
NC_000023.9:g.69170074G>A	NCBI36
NG_009809.1:g.422439G>A
NG_009809.2:g.422433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.895G>A MANE Select	ENSP00000363680.4:p.Gly299Ser
ENST00000374552.8:c.895G>A	ENSP00000363680.4:p.Gly299Ser
ENST00000374553.6:c.895G>A	ENSP00000363681.2:p.Gly299Ser
ENST00000524573.5:c.886G>A	ENSP00000432585.1:p.Gly296Ser
ENST00000616899.1:c.499G>A	ENSP00000481963.1:p.Gly167Ser
NM_001005609.1:c.895G>A	NP_001005609.1:p.Gly299Ser
NM_001005612.2:c.886G>A	NP_001005612.2:p.Gly296Ser
NM_001399.4:c.895G>A	NP_001390.1:p.Gly299Ser
XM_006724630.2:c.886G>A	XP_006724693.1:p.Gly296Ser
XM_011530885.1:c.895G>A	XP_011529187.1:p.Gly299Ser
XM_011530885.2:c.895G>A	XP_011529187.1:p.Gly299Ser
XM_017029336.1:c.882+13G>A	XP_016884825.1:n.882+13G>A
NM_001399.5:c.895G>A MANE Select	NP_001390.1:p.Gly299Ser
NM_001005609.2:c.895G>A	NP_001005609.1:p.Gly299Ser
NM_001005612.3:c.886G>A	NP_001005612.2:p.Gly296Ser