Canonical Allele Identifier: CA412852286
Gene: EBP HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.348C>A MANE Select ENSP00000417052.1:p.Asn116Lys
ENST00000651615.1:c.348C>A ENSP00000498524.1:p.Asn116Lys
ENST00000276096.10:n.306C>A
ENST00000414061.1:c.348C>A ENSP00000405832.1:p.Asn116Lys
ENST00000446158.5:c.348C>A ENSP00000390031.1:p.Asn116Lys
ENST00000466461.1:n.187C>A
ENST00000495186.5:c.348C>A ENSP00000417052.1:p.Asn116Lys
ENST00000498425.1:n.469C>A
NM_006579.2:c.348C>A NP_006570.1:p.Asn116Lys
NM_006579.3:c.348C>A MANE Select NP_006570.1:p.Asn116Lys