Canonical Allele Identifier: CA642453526

Gene: EDA

Linked Data

• ClinVar Variation Id: 645519
• ClinVar RCV Id: RCV000799606
• dbSNP Id: rs397516664
• gnomAD v2: X-69243096-G-C
• gnomAD v4: X-70023246-G-C
• MyVariant Identifiers: chrX:g.69243096G>C (hg19) ; chrX:g.70023246G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70023246G>C , CM000685.2:g.70023246G>C	GRCh38
NC_000023.10:g.69243096G>C , CM000685.1:g.69243096G>C	GRCh37
NC_000023.9:g.69159821G>C	NCBI36
NG_009809.1:g.412186G>C
NG_009809.2:g.412180G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.526+5G>C MANE Select	ENSP00000363680.4:n.526+5G>C
ENST00000374552.8:c.526+5G>C	ENSP00000363680.4:n.526+5G>C
ENST00000374553.6:c.526+5G>C	ENSP00000363681.2:n.526+5G>C
ENST00000503592.5:c.130+5G>C	ENSP00000423037.1:n.130+5G>C
ENST00000524573.5:c.526+5G>C	ENSP00000432585.1:n.526+5G>C
ENST00000616899.1:c.130+5G>C	ENSP00000481963.1:n.130+5G>C
NM_001005609.1:c.526+5G>C	NP_001005609.1:n.526+5G>C
NM_001005612.2:c.526+5G>C	NP_001005612.2:n.526+5G>C
NM_001399.4:c.526+5G>C	NP_001390.1:n.526+5G>C
XM_006724630.2:c.526+5G>C	XP_006724693.1:n.526+5G>C
XM_011530885.1:c.526+5G>C	XP_011529187.1:n.526+5G>C
XM_011530885.2:c.526+5G>C	XP_011529187.1:n.526+5G>C
XM_017029336.1:c.526+5G>C	XP_016884825.1:n.526+5G>C
NM_001399.5:c.526+5G>C MANE Select	NP_001390.1:n.526+5G>C
NM_001005609.2:c.526+5G>C	NP_001005609.1:n.526+5G>C
NM_001005612.3:c.526+5G>C	NP_001005612.2:n.526+5G>C