Canonical Allele Identifier: CA476866939
Gene: BUD13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.116619279A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748563A>G , CM000673.2:g.116748563A>G GRCh38
NC_000011.9:g.116619279A>G , CM000673.1:g.116619279A>G GRCh37
NC_000011.8:g.116124489A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.1779T>C MANE Select ENSP00000260210.3:p.Phe593=
ENST00000260210.4:c.1779T>C ENSP00000260210.3:p.Phe593=
ENST00000375445.7:c.1377T>C ENSP00000364594.3:p.Phe459=
ENST00000419189.1:c.554T>C
NM_001159736.1:c.1377T>C NP_001153208.1:p.Phe459=
NM_032725.3:c.1779T>C NP_116114.1:p.Phe593=
XM_011543035.1:c.1680T>C XP_011541337.1:p.Phe560=
XM_011543035.2:c.1680T>C XP_011541337.1:p.Phe560=
NM_032725.4:c.1779T>C MANE Select NP_116114.1:p.Phe593=
NM_001159736.2:c.1377T>C NP_001153208.1:p.Phe459=