Canonical Allele Identifier: CA273568

Gene: EDA

Linked Data

• ClinVar Variation Id: 178916
• ClinVar RCV Id: RCV000155689
• dbSNP Id: rs727504537
• MyVariant Identifiers: chrX:g.68836549G>A (hg19) ; chrX:g.69616705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69616705G>A , CM000685.2:g.69616705G>A	GRCh38
NC_000023.10:g.68836549G>A , CM000685.1:g.68836549G>A	GRCh37
NC_000023.9:g.68753274G>A	NCBI36
NG_009809.1:g.5639G>A
NG_009809.2:g.5639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.396+1G>A MANE Select	ENSP00000363680.4:n.396+1G>A
ENST00000338901.4:c.397G>A	ENSP00000340611.4:p.Val133Met
ENST00000374548.5:n.638+1G>A
ENST00000374552.8:c.396+1G>A	ENSP00000363680.4:n.396+1G>A
ENST00000374553.6:c.396+1G>A	ENSP00000363681.2:n.396+1G>A
ENST00000502251.5:n.638+1G>A
ENST00000524573.5:c.396+1G>A	ENSP00000432585.1:n.396+1G>A
ENST00000525810.5:c.396+1G>A	ENSP00000434195.1:n.396+1G>A
ENST00000527388.5:c.396+1G>A	ENSP00000434861.1:n.396+1G>A
ENST00000533317.5:n.638+1G>A
NM_001005609.1:c.396+1G>A	NP_001005609.1:n.396+1G>A
NM_001005610.3:c.396+1G>A	NP_001005610.2:n.396+1G>A
NM_001005612.2:c.396+1G>A	NP_001005612.2:n.396+1G>A
NM_001005613.3:c.396+1G>A	NP_001005613.1:n.396+1G>A
NM_001399.4:c.396+1G>A	NP_001390.1:n.396+1G>A
XM_006724630.2:c.396+1G>A	XP_006724693.1:n.396+1G>A
XM_011530885.1:c.396+1G>A	XP_011529187.1:n.396+1G>A
XM_011530885.2:c.396+1G>A	XP_011529187.1:n.396+1G>A
XM_017029336.1:c.396+1G>A	XP_016884825.1:n.396+1G>A
XM_017029337.1:c.396+1G>A	XP_016884826.1:n.396+1G>A
XR_001755660.1:n.619+1G>A
NM_001399.5:c.396+1G>A MANE Select	NP_001390.1:n.396+1G>A
NM_001005609.2:c.396+1G>A	NP_001005609.1:n.396+1G>A
NM_001005610.4:c.396+1G>A	NP_001005610.2:n.396+1G>A
NM_001005612.3:c.396+1G>A	NP_001005612.2:n.396+1G>A
NM_001005613.4:c.396+1G>A	NP_001005613.1:n.396+1G>A