Canonical Allele Identifier: CA16621477

Gene: EDA

Linked Data

• ClinVar Variation Id: 418174
• ClinVar RCV Id: RCV000480786 ; RCV001851133
• dbSNP Id: rs749830948
• MyVariant Identifiers: chrX:g.69255427G>A (hg19) ; chrX:g.70035577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035577G>A , CM000685.2:g.70035577G>A	GRCh38
NC_000023.10:g.69255427G>A , CM000685.1:g.69255427G>A	GRCh37
NC_000023.9:g.69172152G>A	NCBI36
NG_009809.1:g.424517G>A
NG_009809.2:g.424511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.1144G>A MANE Select	ENSP00000363680.4:p.Ala382Thr
ENST00000374552.8:c.1144G>A	ENSP00000363680.4:p.Ala382Thr
ENST00000374553.6:c.1138G>A	ENSP00000363681.2:p.Ala380Thr
ENST00000524573.5:c.1129G>A	ENSP00000432585.1:p.Ala377Thr
ENST00000616899.1:c.748G>A	ENSP00000481963.1:p.Ala250Thr
NM_001005609.1:c.1138G>A	NP_001005609.1:p.Ala380Thr
NM_001005612.2:c.1129G>A	NP_001005612.2:p.Ala377Thr
NM_001399.4:c.1144G>A	NP_001390.1:p.Ala382Thr
XM_006724630.2:c.1135G>A	XP_006724693.1:p.Ala379Thr
XM_017029336.1:c.1102G>A	XP_016884825.1:p.Ala368Thr
NM_001399.5:c.1144G>A MANE Select	NP_001390.1:p.Ala382Thr
NM_001005609.2:c.1138G>A	NP_001005609.1:p.Ala380Thr
NM_001005612.3:c.1129G>A	NP_001005612.2:p.Ala377Thr