Canonical Allele Identifier: CA516015085

Gene: EBP

Linked Data

• ClinVar Variation Id: 2996471
• ClinVar RCV Id: RCV003856622
• MyVariant Identifiers: chrX:g.48385552C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527164C>T , CM000685.2:g.48527164C>T	GRCh38
NC_000023.10:g.48385552C>T , CM000685.1:g.48385552C>T	GRCh37
NC_000023.9:g.48270496C>T	NCBI36
NG_007452.1:g.10389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.348C>T MANE Select	ENSP00000417052.1:p.Asn116=
ENST00000651615.1:c.348C>T	ENSP00000498524.1:p.Asn116=
ENST00000276096.10:n.306C>T
ENST00000414061.1:c.348C>T	ENSP00000405832.1:p.Asn116=
ENST00000446158.5:c.348C>T	ENSP00000390031.1:p.Asn116=
ENST00000466461.1:n.187C>T
ENST00000495186.5:c.348C>T	ENSP00000417052.1:p.Asn116=
ENST00000498425.1:n.469C>T
NM_006579.2:c.348C>T	NP_006570.1:p.Asn116=
NM_006579.3:c.348C>T MANE Select	NP_006570.1:p.Asn116=