Canonical Allele Identifier: CA229293782

Gene: BUD13

Linked Data

• dbSNP Id: rs147624821
• gnomAD v2: 11-116619032-A-G
• gnomAD v3: 11-116748316-A-G
• gnomAD v4: 11-116748316-A-G
• MyVariant Identifiers: chr11:g.116619032A>G (hg19) ; chr11:g.116748316A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116748316A>G , CM000673.2:g.116748316A>G	GRCh38
NC_000011.9:g.116619032A>G , CM000673.1:g.116619032A>G	GRCh37
NC_000011.8:g.116124242A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.*166T>C MANE Select	ENSP00000260210.3:n.*166T>C
ENST00000260210.4:c.*166T>C	ENSP00000260210.3:n.*166T>C
ENST00000375445.7:c.*166T>C	ENSP00000364594.3:n.*166T>C
ENST00000419189.1:c.801T>C
NM_001159736.1:c.*166T>C	NP_001153208.1:n.*166T>C
NM_032725.3:c.*166T>C	NP_116114.1:n.*166T>C
XM_011543035.1:c.*166T>C	XP_011541337.1:n.*166T>C
XM_011543035.2:c.*166T>C	XP_011541337.1:n.*166T>C
NM_032725.4:c.*166T>C MANE Select	NP_116114.1:n.*166T>C
NM_001159736.2:c.*166T>C	NP_001153208.1:n.*166T>C