Canonical Allele Identifier: CA412852410
Gene: EBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527193C>T , CM000685.2:g.48527193C>T GRCh38
NC_000023.10:g.48385581C>T , CM000685.1:g.48385581C>T GRCh37
NC_000023.9:g.48270525C>T NCBI36
NG_007452.1:g.10418C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.377C>T MANE Select ENSP00000417052.1:p.Ala126Val
ENST00000651615.1:c.377C>T ENSP00000498524.1:p.Ala126Val
ENST00000276096.10:n.335C>T
ENST00000414061.1:c.377C>T ENSP00000405832.1:p.Ala126Val
ENST00000446158.5:c.377C>T ENSP00000390031.1:p.Ala126Val
ENST00000466461.1:n.216C>T
ENST00000495186.5:c.377C>T ENSP00000417052.1:p.Ala126Val
ENST00000498425.1:n.498C>T
NM_006579.2:c.377C>T NP_006570.1:p.Ala126Val
NM_006579.3:c.377C>T MANE Select NP_006570.1:p.Ala126Val