Canonical Allele Identifier: CA413449039

Gene: EDA

Linked Data

• ClinVar Variation Id: 1044137
• ClinVar RCV Id: RCV001348345
• dbSNP Id: rs2020227357
• MyVariant Identifiers: chrX:g.69253368G>A (hg19) ; chrX:g.70033518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033518G>A , CM000685.2:g.70033518G>A	GRCh38
NC_000023.10:g.69253368G>A , CM000685.1:g.69253368G>A	GRCh37
NC_000023.9:g.69170093G>A	NCBI36
NG_009809.1:g.422458G>A
NG_009809.2:g.422452G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.914G>A MANE Select	ENSP00000363680.4:p.Ser305Asn
ENST00000374552.8:c.914G>A	ENSP00000363680.4:p.Ser305Asn
ENST00000374553.6:c.914G>A	ENSP00000363681.2:p.Ser305Asn
ENST00000524573.5:c.905G>A	ENSP00000432585.1:p.Ser302Asn
ENST00000616899.1:c.518G>A	ENSP00000481963.1:p.Ser173Asn
NM_001005609.1:c.914G>A	NP_001005609.1:p.Ser305Asn
NM_001005612.2:c.905G>A	NP_001005612.2:p.Ser302Asn
NM_001399.4:c.914G>A	NP_001390.1:p.Ser305Asn
XM_006724630.2:c.905G>A	XP_006724693.1:p.Ser302Asn
XM_011530885.1:c.914G>A	XP_011529187.1:p.Ser305Asn
XM_011530885.2:c.914G>A	XP_011529187.1:p.Ser305Asn
XM_017029336.1:c.882+32G>A	XP_016884825.1:n.882+32G>A
NM_001399.5:c.914G>A MANE Select	NP_001390.1:p.Ser305Asn
NM_001005609.2:c.914G>A	NP_001005609.1:p.Ser305Asn
NM_001005612.3:c.905G>A	NP_001005612.2:p.Ser302Asn