Canonical Allele Identifier: CA330952204

Gene: EDA

Linked Data

• dbSNP Id: rs964746288
• gnomAD v4: X-70027723-T-C
• MyVariant Identifiers: chrX:g.69247573T>C (hg19) ; chrX:g.70027723T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027723T>C , CM000685.2:g.70027723T>C	GRCh38
NC_000023.10:g.69247573T>C , CM000685.1:g.69247573T>C	GRCh37
NC_000023.9:g.69164298T>C	NCBI36
NG_009809.1:g.416663T>C
NG_009809.2:g.416657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.527-134T>C MANE Select	ENSP00000363680.4:n.527-134T>C
ENST00000374552.8:c.527-134T>C	ENSP00000363680.4:n.527-134T>C
ENST00000374553.6:c.527-134T>C	ENSP00000363681.2:n.527-134T>C
ENST00000503592.5:c.131-134T>C	ENSP00000423037.1:n.131-134T>C
ENST00000524573.5:c.527-134T>C	ENSP00000432585.1:n.527-134T>C
ENST00000616899.1:c.131-134T>C	ENSP00000481963.1:n.131-134T>C
NM_001005609.1:c.527-134T>C	NP_001005609.1:n.527-134T>C
NM_001005612.2:c.527-134T>C	NP_001005612.2:n.527-134T>C
NM_001399.4:c.527-134T>C	NP_001390.1:n.527-134T>C
XM_006724630.2:c.527-134T>C	XP_006724693.1:n.527-134T>C
XM_011530885.1:c.527-134T>C	XP_011529187.1:n.527-134T>C
XM_011530885.2:c.527-134T>C	XP_011529187.1:n.527-134T>C
XM_017029336.1:c.527-134T>C	XP_016884825.1:n.527-134T>C
NM_001399.5:c.527-134T>C MANE Select	NP_001390.1:n.527-134T>C
NM_001005609.2:c.527-134T>C	NP_001005609.1:n.527-134T>C
NM_001005612.3:c.527-134T>C	NP_001005612.2:n.527-134T>C