Canonical Allele Identifier: CA382695221

Gene: BUD13

Linked Data

• MyVariant Identifiers: chr11:g.116619273C>A (hg19) ; chr11:g.116748557C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116748557C>A , CM000673.2:g.116748557C>A	GRCh38
NC_000011.9:g.116619273C>A , CM000673.1:g.116619273C>A	GRCh37
NC_000011.8:g.116124483C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.1785G>T MANE Select	ENSP00000260210.3:p.Gln595His
ENST00000260210.4:c.1785G>T	ENSP00000260210.3:p.Gln595His
ENST00000375445.7:c.1383G>T	ENSP00000364594.3:p.Gln461His
ENST00000419189.1:c.560G>T
NM_001159736.1:c.1383G>T	NP_001153208.1:p.Gln461His
NM_032725.3:c.1785G>T	NP_116114.1:p.Gln595His
XM_011543035.1:c.1686G>T	XP_011541337.1:p.Gln562His
XM_011543035.2:c.1686G>T	XP_011541337.1:p.Gln562His
NM_032725.4:c.1785G>T MANE Select	NP_116114.1:p.Gln595His
NM_001159736.2:c.1383G>T	NP_001153208.1:p.Gln461His