Canonical Allele Identifier: CA476866930
Gene: BUD13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.116619261G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748545G>C , CM000673.2:g.116748545G>C GRCh38
NC_000011.9:g.116619261G>C , CM000673.1:g.116619261G>C GRCh37
NC_000011.8:g.116124471G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.1797C>G MANE Select ENSP00000260210.3:p.Ala599=
ENST00000260210.4:c.1797C>G ENSP00000260210.3:p.Ala599=
ENST00000375445.7:c.1395C>G ENSP00000364594.3:p.Ala465=
ENST00000419189.1:c.572C>G
NM_001159736.1:c.1395C>G NP_001153208.1:p.Ala465=
NM_032725.3:c.1797C>G NP_116114.1:p.Ala599=
XM_011543035.1:c.1698C>G XP_011541337.1:p.Ala566=
XM_011543035.2:c.1698C>G XP_011541337.1:p.Ala566=
NM_032725.4:c.1797C>G MANE Select NP_116114.1:p.Ala599=
NM_001159736.2:c.1395C>G NP_001153208.1:p.Ala465=