Canonical Allele Identifier: CA255898
Gene: EBP HGNC NCBI

Linked Data

ClinVar Variation Id: 11484
dbSNP Id: rs104894799

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48523958C>T , CM000685.2:g.48523958C>T GRCh38
NC_000023.10:g.48382346C>T , CM000685.1:g.48382346C>T GRCh37
NC_000023.9:g.48267290C>T NCBI36
NG_007452.1:g.7183C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.187C>T MANE Select ENSP00000417052.1:p.Arg63Ter
ENST00000651615.1:c.187C>T ENSP00000498524.1:p.Arg63Ter
ENST00000276096.10:n.145C>T
ENST00000414061.1:c.187C>T ENSP00000405832.1:p.Arg63Ter
ENST00000446158.5:c.187C>T ENSP00000390031.1:p.Arg63Ter
ENST00000495186.5:c.187C>T ENSP00000417052.1:p.Arg63Ter
ENST00000498425.1:n.308C>T
NM_006579.2:c.187C>T NP_006570.1:p.Arg63Ter
NM_006579.3:c.187C>T MANE Select NP_006570.1:p.Arg63Ter