Canonical Allele Identifier: CA10588798

Gene: EDA

Linked Data

• ClinVar Variation Id: 265112
• ClinVar RCV Id: RCV000255432 ; RCV000532383 ; RCV002287400
• dbSNP Id: rs886039347
• gnomAD v4: X-70035502-C-T
• MyVariant Identifiers: chrX:g.69255352C>T (hg19) ; chrX:g.70035502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035502C>T , CM000685.2:g.70035502C>T	GRCh38
NC_000023.10:g.69255352C>T , CM000685.1:g.69255352C>T	GRCh37
NC_000023.9:g.69172077C>T	NCBI36
NG_009809.1:g.424442C>T
NG_009809.2:g.424436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.1069C>T MANE Select	ENSP00000363680.4:p.Arg357Trp
ENST00000374552.8:c.1069C>T	ENSP00000363680.4:p.Arg357Trp
ENST00000374553.6:c.1063C>T	ENSP00000363681.2:p.Arg355Trp
ENST00000524573.5:c.1054C>T	ENSP00000432585.1:p.Arg352Trp
ENST00000616899.1:c.673C>T	ENSP00000481963.1:p.Arg225Trp
NM_001005609.1:c.1063C>T	NP_001005609.1:p.Arg355Trp
NM_001005612.2:c.1054C>T	NP_001005612.2:p.Arg352Trp
NM_001399.4:c.1069C>T	NP_001390.1:p.Arg357Trp
XM_006724630.2:c.1060C>T	XP_006724693.1:p.Arg354Trp
XM_017029336.1:c.1027C>T	XP_016884825.1:p.Arg343Trp
NM_001399.5:c.1069C>T MANE Select	NP_001390.1:p.Arg357Trp
NM_001005609.2:c.1063C>T	NP_001005609.1:p.Arg355Trp
NM_001005612.3:c.1054C>T	NP_001005612.2:p.Arg352Trp