Canonical Allele Identifier: CA412852612

Gene: EBP

Linked Data

• ClinVar Variation Id: 1676540
• ClinVar RCV Id: RCV002221922
• dbSNP Id: rs2147156548
• MyVariant Identifiers: chrX:g.48385641T>A (hg19) ; chrX:g.48527253T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527253T>A , CM000685.2:g.48527253T>A	GRCh38
NC_000023.10:g.48385641T>A , CM000685.1:g.48385641T>A	GRCh37
NC_000023.9:g.48270585T>A	NCBI36
NG_007452.1:g.10478T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.437T>A MANE Select	ENSP00000417052.1:p.Leu146His
ENST00000651615.1:c.437T>A	ENSP00000498524.1:p.Leu146His
ENST00000276096.10:n.395T>A
ENST00000414061.1:c.437T>A
ENST00000446158.5:c.437T>A	ENSP00000390031.1:p.Leu146His
ENST00000466461.1:n.276T>A
ENST00000495186.5:c.437T>A	ENSP00000417052.1:p.Leu146His
ENST00000498425.1:n.558T>A
NM_006579.2:c.437T>A	NP_006570.1:p.Leu146His
NM_006579.3:c.437T>A MANE Select	NP_006570.1:p.Leu146His