Canonical Allele Identifier: CA5731661
Gene: BUB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123162662C>T , CM000672.2:g.123162662C>T GRCh38
NC_000010.10:g.124922178C>T , CM000672.1:g.124922178C>T GRCh37
NC_000010.9:g.124912168C>T NCBI36
NG_033794.1:g.13419C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368865.9:c.805C>T MANE Select ENSP00000357858.4:p.Leu269=
ENST00000368858.9:c.805C>T ENSP00000357851.5:p.Leu269=
ENST00000368859.6:c.418-2385C>T ENSP00000357852.1:n.418-2385C>T
ENST00000368865.8:c.805C>T ENSP00000357858.4:p.Leu269=
ENST00000407911.2:c.805C>T ENSP00000383941.2:p.Leu269=
ENST00000481952.1:n.211C>T
NM_001007793.2:c.805C>T NP_001007794.1:p.Leu269=
NM_004725.3:c.805C>T NP_004716.1:p.Leu269=
NM_004725.4:c.805C>T MANE Select NP_004716.1:p.Leu269=
NM_001007793.3:c.805C>T NP_001007794.1:p.Leu269=