Canonical Allele Identifier: CA517014339

Gene: EDA

Linked Data

• ClinVar Variation Id: 1161485
• ClinVar RCV Id: RCV001506035
• dbSNP Id: rs2147419146
• gnomAD v4: X-69957089-T-C
• MyVariant Identifiers: chrX:g.69176939T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957089T>C , CM000685.2:g.69957089T>C	GRCh38
NC_000023.10:g.69176939T>C , CM000685.1:g.69176939T>C	GRCh37
NC_000023.9:g.69093664T>C	NCBI36
NG_009809.1:g.346029T>C
NG_009809.2:g.346023T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.459T>C MANE Select	ENSP00000363680.4:p.Arg153=
ENST00000374548.5:n.701T>C
ENST00000374552.8:c.459T>C	ENSP00000363680.4:p.Arg153=
ENST00000374553.6:c.459T>C	ENSP00000363681.2:p.Arg153=
ENST00000502251.5:n.752T>C
ENST00000503592.5:c.63T>C	ENSP00000423037.1:p.Arg21=
ENST00000524573.5:c.459T>C	ENSP00000432585.1:p.Arg153=
ENST00000533317.5:n.1074T>C
ENST00000616899.1:c.63T>C	ENSP00000481963.1:p.Arg21=
NM_001005609.1:c.459T>C	NP_001005609.1:p.Arg153=
NM_001005612.2:c.459T>C	NP_001005612.2:p.Arg153=
NM_001399.4:c.459T>C	NP_001390.1:p.Arg153=
XM_006724630.2:c.459T>C	XP_006724693.1:p.Arg153=
XM_011530885.1:c.459T>C	XP_011529187.1:p.Arg153=
XM_011530885.2:c.459T>C	XP_011529187.1:p.Arg153=
XM_017029336.1:c.459T>C	XP_016884825.1:p.Arg153=
NM_001399.5:c.459T>C MANE Select	NP_001390.1:p.Arg153=
NM_001005609.2:c.459T>C	NP_001005609.1:p.Arg153=
NM_001005612.3:c.459T>C	NP_001005612.2:p.Arg153=