Canonical Allele Identifier: CA10577175

Gene: EDA

Linked Data

• ClinVar Variation Id: 228658
• ClinVar RCV Id: RCV000215203
• dbSNP Id: rs876657803
• MyVariant Identifiers: chrX:g.69247701T>G (hg19) ; chrX:g.70027851T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027851T>G , CM000685.2:g.70027851T>G	GRCh38
NC_000023.10:g.69247701T>G , CM000685.1:g.69247701T>G	GRCh37
NC_000023.9:g.69164426T>G	NCBI36
NG_009809.1:g.416791T>G
NG_009809.2:g.416785T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.527-6T>G MANE Select	ENSP00000363680.4:n.527-6T>G
ENST00000374552.8:c.527-6T>G	ENSP00000363680.4:n.527-6T>G
ENST00000374553.6:c.527-6T>G	ENSP00000363681.2:n.527-6T>G
ENST00000503592.5:c.131-6T>G	ENSP00000423037.1:n.131-6T>G
ENST00000524573.5:c.527-6T>G	ENSP00000432585.1:n.527-6T>G
ENST00000616899.1:c.131-6T>G	ENSP00000481963.1:n.131-6T>G
NM_001005609.1:c.527-6T>G	NP_001005609.1:n.527-6T>G
NM_001005612.2:c.527-6T>G	NP_001005612.2:n.527-6T>G
NM_001399.4:c.527-6T>G	NP_001390.1:n.527-6T>G
XM_006724630.2:c.527-6T>G	XP_006724693.1:n.527-6T>G
XM_011530885.1:c.527-6T>G	XP_011529187.1:n.527-6T>G
XM_011530885.2:c.527-6T>G	XP_011529187.1:n.527-6T>G
XM_017029336.1:c.527-6T>G	XP_016884825.1:n.527-6T>G
NM_001399.5:c.527-6T>G MANE Select	NP_001390.1:n.527-6T>G
NM_001005609.2:c.527-6T>G	NP_001005609.1:n.527-6T>G
NM_001005612.3:c.527-6T>G	NP_001005612.2:n.527-6T>G