Canonical Allele Identifier: CA271467

Gene: EBP

Linked Data

• ClinVar Variation Id: 158543
• ClinVar RCV Id: RCV000145935
• dbSNP Id: rs587783611
• MyVariant Identifiers: chrX:g.48385389C>A (hg19) ; chrX:g.48527001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527001C>A , CM000685.2:g.48527001C>A	GRCh38
NC_000023.10:g.48385389C>A , CM000685.1:g.48385389C>A	GRCh37
NC_000023.9:g.48270333C>A	NCBI36
NG_007452.1:g.10226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.314C>A MANE Select	ENSP00000417052.1:p.Ala105Asp
ENST00000651615.1:c.314C>A	ENSP00000498524.1:p.Ala105Asp
ENST00000276096.10:n.272C>A
ENST00000414061.1:c.314C>A	ENSP00000405832.1:p.Ala105Asp
ENST00000446158.5:c.314C>A	ENSP00000390031.1:p.Ala105Asp
ENST00000466461.1:n.153C>A
ENST00000495186.5:c.314C>A	ENSP00000417052.1:p.Ala105Asp
ENST00000498425.1:n.435C>A
NM_006579.2:c.314C>A	NP_006570.1:p.Ala105Asp
NM_006579.3:c.314C>A MANE Select	NP_006570.1:p.Ala105Asp