Canonical Allele Identifier: CA382695048
Gene: BUD13 HGNC NCBI

Linked Data

COSMIC: COSM32983

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748482T>G , CM000673.2:g.116748482T>G GRCh38
NC_000011.9:g.116619198T>G , CM000673.1:g.116619198T>G GRCh37
NC_000011.8:g.116124408T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.1860A>C MANE Select ENSP00000260210.3:p.Ter620Tyr
ENST00000260210.4:c.1860A>C ENSP00000260210.3:p.Ter620Tyr
ENST00000375445.7:c.1458A>C ENSP00000364594.3:p.Ter486Tyr
ENST00000419189.1:c.635A>C
NM_001159736.1:c.1458A>C NP_001153208.1:p.Ter486Tyr
NM_032725.3:c.1860A>C NP_116114.1:p.Ter620Tyr
XM_011543035.1:c.1761A>C XP_011541337.1:p.Ter587Tyr
XM_011543035.2:c.1761A>C XP_011541337.1:p.Ter587Tyr
NM_032725.4:c.1860A>C MANE Select NP_116114.1:p.Ter620Tyr
NM_001159736.2:c.1458A>C NP_001153208.1:p.Ter486Tyr