Canonical Allele Identifier: CA382695185

Gene: BUD13

Linked Data

• MyVariant Identifiers: chr11:g.116619257G>T (hg19) ; chr11:g.116748541G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116748541G>T , CM000673.2:g.116748541G>T	GRCh38
NC_000011.9:g.116619257G>T , CM000673.1:g.116619257G>T	GRCh37
NC_000011.8:g.116124467G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.1801C>A MANE Select	ENSP00000260210.3:p.Leu601Ile
ENST00000260210.4:c.1801C>A	ENSP00000260210.3:p.Leu601Ile
ENST00000375445.7:c.1399C>A	ENSP00000364594.3:p.Leu467Ile
ENST00000419189.1:c.576C>A
NM_001159736.1:c.1399C>A	NP_001153208.1:p.Leu467Ile
NM_032725.3:c.1801C>A	NP_116114.1:p.Leu601Ile
XM_011543035.1:c.1702C>A	XP_011541337.1:p.Leu568Ile
XM_011543035.2:c.1702C>A	XP_011541337.1:p.Leu568Ile
NM_032725.4:c.1801C>A MANE Select	NP_116114.1:p.Leu601Ile
NM_001159736.2:c.1399C>A	NP_001153208.1:p.Leu467Ile