Canonical Allele Identifier: CA382695109

Gene: BUD13

Linked Data

• MyVariant Identifiers: chr11:g.116619223T>A (hg19) ; chr11:g.116748507T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116748507T>A , CM000673.2:g.116748507T>A	GRCh38
NC_000011.9:g.116619223T>A , CM000673.1:g.116619223T>A	GRCh37
NC_000011.8:g.116124433T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.1835A>T MANE Select	ENSP00000260210.3:p.Tyr612Phe
ENST00000260210.4:c.1835A>T	ENSP00000260210.3:p.Tyr612Phe
ENST00000375445.7:c.1433A>T	ENSP00000364594.3:p.Tyr478Phe
ENST00000419189.1:c.610A>T
NM_001159736.1:c.1433A>T	NP_001153208.1:p.Tyr478Phe
NM_032725.3:c.1835A>T	NP_116114.1:p.Tyr612Phe
XM_011543035.1:c.1736A>T	XP_011541337.1:p.Tyr579Phe
XM_011543035.2:c.1736A>T	XP_011541337.1:p.Tyr579Phe
NM_032725.4:c.1835A>T MANE Select	NP_116114.1:p.Tyr612Phe
NM_001159736.2:c.1433A>T	NP_001153208.1:p.Tyr478Phe