Canonical Allele Identifier: CA273147

Gene: EDA

Linked Data

• ClinVar Variation Id: 163324
• ClinVar RCV Id: RCV000150607
• dbSNP Id: rs727503011
• COSMIC: COSM6039342 ; COSM6039343
• MyVariant Identifiers: chrX:g.69255274C>T (hg19) ; chrX:g.70035424C>T (hg38)
• PubMed: PMID:8696334 ; PMID:11378824 ; PMID:21357618 ; PMID:23553579

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035424C>T , CM000685.2:g.70035424C>T	GRCh38
NC_000023.10:g.69255274C>T , CM000685.1:g.69255274C>T	GRCh37
NC_000023.9:g.69171999C>T	NCBI36
NG_009809.1:g.424364C>T
NG_009809.2:g.424358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.991C>T MANE Select	ENSP00000363680.4:p.Gln331Ter
ENST00000374552.8:c.991C>T	ENSP00000363680.4:p.Gln331Ter
ENST00000374553.6:c.985C>T	ENSP00000363681.2:p.Gln329Ter
ENST00000524573.5:c.976C>T	ENSP00000432585.1:p.Gln326Ter
ENST00000616899.1:c.595C>T	ENSP00000481963.1:p.Gln199Ter
NM_001005609.1:c.985C>T	NP_001005609.1:p.Gln329Ter
NM_001005612.2:c.976C>T	NP_001005612.2:p.Gln326Ter
NM_001399.4:c.991C>T	NP_001390.1:p.Gln331Ter
XM_006724630.2:c.982C>T	XP_006724693.1:p.Gln328Ter
XM_017029336.1:c.949C>T	XP_016884825.1:p.Gln317Ter
NM_001399.5:c.991C>T MANE Select	NP_001390.1:p.Gln331Ter
NM_001005609.2:c.985C>T	NP_001005609.1:p.Gln329Ter
NM_001005612.3:c.976C>T	NP_001005612.2:p.Gln326Ter