Canonical Allele Identifier: CA382695075

Gene: BUD13

Linked Data

• MyVariant Identifiers: chr11:g.116619209C>A (hg19) ; chr11:g.116748493C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116748493C>A , CM000673.2:g.116748493C>A	GRCh38
NC_000011.9:g.116619209C>A , CM000673.1:g.116619209C>A	GRCh37
NC_000011.8:g.116124419C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.1849G>T MANE Select	ENSP00000260210.3:p.Glu617Ter
ENST00000260210.4:c.1849G>T	ENSP00000260210.3:p.Glu617Ter
ENST00000375445.7:c.1447G>T	ENSP00000364594.3:p.Glu483Ter
ENST00000419189.1:c.624G>T
NM_001159736.1:c.1447G>T	NP_001153208.1:p.Glu483Ter
NM_032725.3:c.1849G>T	NP_116114.1:p.Glu617Ter
XM_011543035.1:c.1750G>T	XP_011541337.1:p.Glu584Ter
XM_011543035.2:c.1750G>T	XP_011541337.1:p.Glu584Ter
NM_032725.4:c.1849G>T MANE Select	NP_116114.1:p.Glu617Ter
NM_001159736.2:c.1447G>T	NP_001153208.1:p.Glu483Ter