Canonical Allele Identifier: CA10577179

Gene: EDA

Linked Data

• ClinVar Variation Id: 228339
• ClinVar RCV Id: RCV000222108
• dbSNP Id: rs876657687
• MyVariant Identifiers: chrX:g.69255243T>G (hg19) ; chrX:g.70035393T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035393T>G , CM000685.2:g.70035393T>G	GRCh38
NC_000023.10:g.69255243T>G , CM000685.1:g.69255243T>G	GRCh37
NC_000023.9:g.69171968T>G	NCBI36
NG_009809.1:g.424333T>G
NG_009809.2:g.424327T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.960T>G MANE Select	ENSP00000363680.4:p.Tyr320Ter
ENST00000374552.8:c.960T>G	ENSP00000363680.4:p.Tyr320Ter
ENST00000374553.6:c.954T>G	ENSP00000363681.2:p.Tyr318Ter
ENST00000524573.5:c.945T>G	ENSP00000432585.1:p.Tyr315Ter
ENST00000616899.1:c.564T>G	ENSP00000481963.1:p.Tyr188Ter
NM_001005609.1:c.954T>G	NP_001005609.1:p.Tyr318Ter
NM_001005612.2:c.945T>G	NP_001005612.2:p.Tyr315Ter
NM_001399.4:c.960T>G	NP_001390.1:p.Tyr320Ter
XM_006724630.2:c.951T>G	XP_006724693.1:p.Tyr317Ter
XM_017029336.1:c.918T>G	XP_016884825.1:p.Tyr306Ter
NM_001399.5:c.960T>G MANE Select	NP_001390.1:p.Tyr320Ter
NM_001005609.2:c.954T>G	NP_001005609.1:p.Tyr318Ter
NM_001005612.3:c.945T>G	NP_001005612.2:p.Tyr315Ter