Canonical Allele Identifier: CA382695158

Gene: BUD13

Linked Data

• dbSNP Id: rs1470850188
• gnomAD v3: 11-116748528-T-C
• gnomAD v4: 11-116748528-T-C
• MyVariant Identifiers: chr11:g.116619244T>C (hg19) ; chr11:g.116748528T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116748528T>C , CM000673.2:g.116748528T>C	GRCh38
NC_000011.9:g.116619244T>C , CM000673.1:g.116619244T>C	GRCh37
NC_000011.8:g.116124454T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.1814A>G MANE Select	ENSP00000260210.3:p.Lys605Arg
ENST00000260210.4:c.1814A>G	ENSP00000260210.3:p.Lys605Arg
ENST00000375445.7:c.1412A>G	ENSP00000364594.3:p.Lys471Arg
ENST00000419189.1:c.589A>G
NM_001159736.1:c.1412A>G	NP_001153208.1:p.Lys471Arg
NM_032725.3:c.1814A>G	NP_116114.1:p.Lys605Arg
XM_011543035.1:c.1715A>G	XP_011541337.1:p.Lys572Arg
XM_011543035.2:c.1715A>G	XP_011541337.1:p.Lys572Arg
NM_032725.4:c.1814A>G MANE Select	NP_116114.1:p.Lys605Arg
NM_001159736.2:c.1412A>G	NP_001153208.1:p.Lys471Arg