Canonical Allele Identifier: CA382695115
Gene: BUD13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748510G>A , CM000673.2:g.116748510G>A GRCh38
NC_000011.9:g.116619226G>A , CM000673.1:g.116619226G>A GRCh37
NC_000011.8:g.116124436G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.1832C>T MANE Select ENSP00000260210.3:p.Ala611Val
ENST00000260210.4:c.1832C>T ENSP00000260210.3:p.Ala611Val
ENST00000375445.7:c.1430C>T ENSP00000364594.3:p.Ala477Val
ENST00000419189.1:c.607C>T
NM_001159736.1:c.1430C>T NP_001153208.1:p.Ala477Val
NM_032725.3:c.1832C>T NP_116114.1:p.Ala611Val
XM_011543035.1:c.1733C>T XP_011541337.1:p.Ala578Val
XM_011543035.2:c.1733C>T XP_011541337.1:p.Ala578Val
NM_032725.4:c.1832C>T MANE Select NP_116114.1:p.Ala611Val
NM_001159736.2:c.1430C>T NP_001153208.1:p.Ala477Val