Canonical Allele Identifier: CA261512

Gene: EDA

Linked Data

• ClinVar Variation Id: 44216
• ClinVar RCV Id: RCV000037194 ; RCV003904913
• dbSNP Id: rs397516682
• MyVariant Identifiers: chrX:g.69255244G>T (hg19) ; chrX:g.70035394G>T (hg38)
• PubMed: PMID:9683615

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035394G>T , CM000685.2:g.70035394G>T	GRCh38
NC_000023.10:g.69255244G>T , CM000685.1:g.69255244G>T	GRCh37
NC_000023.9:g.69171969G>T	NCBI36
NG_009809.1:g.424334G>T
NG_009809.2:g.424328G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.961G>T MANE Select	ENSP00000363680.4:p.Glu321Ter
ENST00000374552.8:c.961G>T	ENSP00000363680.4:p.Glu321Ter
ENST00000374553.6:c.955G>T	ENSP00000363681.2:p.Glu319Ter
ENST00000524573.5:c.946G>T	ENSP00000432585.1:p.Glu316Ter
ENST00000616899.1:c.565G>T	ENSP00000481963.1:p.Glu189Ter
NM_001005609.1:c.955G>T	NP_001005609.1:p.Glu319Ter
NM_001005612.2:c.946G>T	NP_001005612.2:p.Glu316Ter
NM_001399.4:c.961G>T	NP_001390.1:p.Glu321Ter
XM_006724630.2:c.952G>T	XP_006724693.1:p.Glu318Ter
XM_017029336.1:c.919G>T	XP_016884825.1:p.Glu307Ter
NM_001399.5:c.961G>T MANE Select	NP_001390.1:p.Glu321Ter
NM_001005609.2:c.955G>T	NP_001005609.1:p.Glu319Ter
NM_001005612.3:c.946G>T	NP_001005612.2:p.Glu316Ter