Canonical Allele Identifier: CA261510

Gene: EDA

Linked Data

• ClinVar Variation Id: 44215
• ClinVar RCV Id: RCV000037193
• dbSNP Id: rs397516681
• MyVariant Identifiers: chrX:g.69253356A>G (hg19) ; chrX:g.70033506A>G (hg38)
• PubMed: PMID:11378824 ; PMID:21457804

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033506A>G , CM000685.2:g.70033506A>G	GRCh38
NC_000023.10:g.69253356A>G , CM000685.1:g.69253356A>G	GRCh37
NC_000023.9:g.69170081A>G	NCBI36
NG_009809.1:g.422446A>G
NG_009809.2:g.422440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.902A>G MANE Select	ENSP00000363680.4:p.Tyr301Cys
ENST00000374552.8:c.902A>G	ENSP00000363680.4:p.Tyr301Cys
ENST00000374553.6:c.902A>G	ENSP00000363681.2:p.Tyr301Cys
ENST00000524573.5:c.893A>G	ENSP00000432585.1:p.Tyr298Cys
ENST00000616899.1:c.506A>G	ENSP00000481963.1:p.Tyr169Cys
NM_001005609.1:c.902A>G	NP_001005609.1:p.Tyr301Cys
NM_001005612.2:c.893A>G	NP_001005612.2:p.Tyr298Cys
NM_001399.4:c.902A>G	NP_001390.1:p.Tyr301Cys
XM_006724630.2:c.893A>G	XP_006724693.1:p.Tyr298Cys
XM_011530885.1:c.902A>G	XP_011529187.1:p.Tyr301Cys
XM_011530885.2:c.902A>G	XP_011529187.1:p.Tyr301Cys
XM_017029336.1:c.882+20A>G	XP_016884825.1:n.882+20A>G
NM_001399.5:c.902A>G MANE Select	NP_001390.1:p.Tyr301Cys
NM_001005609.2:c.902A>G	NP_001005609.1:p.Tyr301Cys
NM_001005612.3:c.893A>G	NP_001005612.2:p.Tyr298Cys