Canonical Allele Identifier: CA413449743

Gene: EDA

Linked Data

• ClinVar Variation Id: 451037
• ClinVar RCV Id: RCV000524024 ; RCV002295301
• dbSNP Id: rs1556110379
• MyVariant Identifiers: chrX:g.69255281C>G (hg19) ; chrX:g.70035431C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035431C>G , CM000685.2:g.70035431C>G	GRCh38
NC_000023.10:g.69255281C>G , CM000685.1:g.69255281C>G	GRCh37
NC_000023.9:g.69172006C>G	NCBI36
NG_009809.1:g.424371C>G
NG_009809.2:g.424365C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.998C>G MANE Select	ENSP00000363680.4:p.Thr333Arg
ENST00000374552.8:c.998C>G	ENSP00000363680.4:p.Thr333Arg
ENST00000374553.6:c.992C>G	ENSP00000363681.2:p.Thr331Arg
ENST00000524573.5:c.983C>G	ENSP00000432585.1:p.Thr328Arg
ENST00000616899.1:c.602C>G	ENSP00000481963.1:p.Thr201Arg
NM_001005609.1:c.992C>G	NP_001005609.1:p.Thr331Arg
NM_001005612.2:c.983C>G	NP_001005612.2:p.Thr328Arg
NM_001399.4:c.998C>G	NP_001390.1:p.Thr333Arg
XM_006724630.2:c.989C>G	XP_006724693.1:p.Thr330Arg
XM_017029336.1:c.956C>G	XP_016884825.1:p.Thr319Arg
NM_001399.5:c.998C>G MANE Select	NP_001390.1:p.Thr333Arg
NM_001005609.2:c.992C>G	NP_001005609.1:p.Thr331Arg
NM_001005612.3:c.983C>G	NP_001005612.2:p.Thr328Arg