Canonical Allele Identifier: CA412852519
Gene: EBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527217T>C , CM000685.2:g.48527217T>C GRCh38
NC_000023.10:g.48385605T>C , CM000685.1:g.48385605T>C GRCh37
NC_000023.9:g.48270549T>C NCBI36
NG_007452.1:g.10442T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.401T>C MANE Select ENSP00000417052.1:p.Leu134Pro
ENST00000651615.1:c.401T>C ENSP00000498524.1:p.Leu134Pro
ENST00000276096.10:n.359T>C
ENST00000414061.1:c.401T>C ENSP00000405832.1:p.Leu134Pro
ENST00000446158.5:c.401T>C ENSP00000390031.1:p.Leu134Pro
ENST00000466461.1:n.240T>C
ENST00000495186.5:c.401T>C ENSP00000417052.1:p.Leu134Pro
ENST00000498425.1:n.522T>C
NM_006579.2:c.401T>C NP_006570.1:p.Leu134Pro
NM_006579.3:c.401T>C MANE Select NP_006570.1:p.Leu134Pro