Canonical Allele Identifier: CA672225355

Gene: BUD13

Linked Data

• dbSNP Id: rs1166180193
• gnomAD v3: 11-116748308-G-C
• gnomAD v4: 11-116748308-G-C
• MyVariant Identifiers: chr11:g.116619024G>C (hg19) ; chr11:g.116748308G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116748308G>C , CM000673.2:g.116748308G>C	GRCh38
NC_000011.9:g.116619024G>C , CM000673.1:g.116619024G>C	GRCh37
NC_000011.8:g.116124234G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.*174C>G MANE Select	ENSP00000260210.3:n.*174C>G
ENST00000260210.4:c.*174C>G	ENSP00000260210.3:n.*174C>G
ENST00000375445.7:c.*174C>G	ENSP00000364594.3:n.*174C>G
ENST00000419189.1:c.809C>G
NM_001159736.1:c.*174C>G	NP_001153208.1:n.*174C>G
NM_032725.3:c.*174C>G	NP_116114.1:n.*174C>G
XM_011543035.1:c.*174C>G	XP_011541337.1:n.*174C>G
XM_011543035.2:c.*174C>G	XP_011541337.1:n.*174C>G
NM_032725.4:c.*174C>G MANE Select	NP_116114.1:n.*174C>G
NM_001159736.2:c.*174C>G	NP_001153208.1:n.*174C>G