Canonical Allele Identifier: CA672225377

Gene: BUD13

Linked Data

• dbSNP Id: rs1367418421
• gnomAD v3: 11-116748360-G-T
• gnomAD v4: 11-116748360-G-T
• MyVariant Identifiers: chr11:g.116619076G>T (hg19) ; chr11:g.116748360G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116748360G>T , CM000673.2:g.116748360G>T	GRCh38
NC_000011.9:g.116619076G>T , CM000673.1:g.116619076G>T	GRCh37
NC_000011.8:g.116124286G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000260210.5:c.*122C>A MANE Select	ENSP00000260210.3:n.*122C>A
ENST00000260210.4:c.*122C>A	ENSP00000260210.3:n.*122C>A
ENST00000375445.7:c.*122C>A	ENSP00000364594.3:n.*122C>A
ENST00000419189.1:c.757C>A
NM_001159736.1:c.*122C>A	NP_001153208.1:n.*122C>A
NM_032725.3:c.*122C>A	NP_116114.1:n.*122C>A
XM_011543035.1:c.*122C>A	XP_011541337.1:n.*122C>A
XM_011543035.2:c.*122C>A	XP_011541337.1:n.*122C>A
NM_032725.4:c.*122C>A MANE Select	NP_116114.1:n.*122C>A
NM_001159736.2:c.*122C>A	NP_001153208.1:n.*122C>A