Canonical Allele Identifier: CA10586173

Gene: EDA

Linked Data

• ClinVar Variation Id: 253054
• ClinVar RCV Id: RCV000239506 ; RCV000692210
• dbSNP Id: rs879255551
• COSMIC: COSM2152799 ; COSM2152800
• MyVariant Identifiers: chrX:g.69253319C>T (hg19) ; chrX:g.70033469C>T (hg38)
• PubMed: PMID:19278982

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033469C>T , CM000685.2:g.70033469C>T	GRCh38
NC_000023.10:g.69253319C>T , CM000685.1:g.69253319C>T	GRCh37
NC_000023.9:g.69170044C>T	NCBI36
NG_009809.1:g.422409C>T
NG_009809.2:g.422403C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.865C>T MANE Select	ENSP00000363680.4:p.Arg289Cys
ENST00000374552.8:c.865C>T	ENSP00000363680.4:p.Arg289Cys
ENST00000374553.6:c.865C>T	ENSP00000363681.2:p.Arg289Cys
ENST00000524573.5:c.856C>T	ENSP00000432585.1:p.Arg286Cys
ENST00000616899.1:c.469C>T	ENSP00000481963.1:p.Arg157Cys
NM_001005609.1:c.865C>T	NP_001005609.1:p.Arg289Cys
NM_001005612.2:c.856C>T	NP_001005612.2:p.Arg286Cys
NM_001399.4:c.865C>T	NP_001390.1:p.Arg289Cys
XM_006724630.2:c.856C>T	XP_006724693.1:p.Arg286Cys
XM_011530885.1:c.865C>T	XP_011529187.1:p.Arg289Cys
XM_011530885.2:c.865C>T	XP_011529187.1:p.Arg289Cys
XM_017029336.1:c.865C>T	XP_016884825.1:p.Arg289Cys
NM_001399.5:c.865C>T MANE Select	NP_001390.1:p.Arg289Cys
NM_001005609.2:c.865C>T	NP_001005609.1:p.Arg289Cys
NM_001005612.3:c.856C>T	NP_001005612.2:p.Arg286Cys