Canonical Allele Identifier: CA229293816

Gene: BUD13

Linked Data

• dbSNP Id: rs549046910
• gnomAD v3: 11-116748347-G-A
• gnomAD v4: 11-116748347-G-A
• MyVariant Identifiers: chr11:g.116619063G>A (hg19) ; chr11:g.116748347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116748347G>A , CM000673.2:g.116748347G>A	GRCh38
NC_000011.9:g.116619063G>A , CM000673.1:g.116619063G>A	GRCh37
NC_000011.8:g.116124273G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000260210.5:c.*135C>T MANE Select	ENSP00000260210.3:n.*135C>T
ENST00000260210.4:c.*135C>T	ENSP00000260210.3:n.*135C>T
ENST00000375445.7:c.*135C>T	ENSP00000364594.3:n.*135C>T
ENST00000419189.1:c.770C>T
NM_001159736.1:c.*135C>T	NP_001153208.1:n.*135C>T
NM_032725.3:c.*135C>T	NP_116114.1:n.*135C>T
XM_011543035.1:c.*135C>T	XP_011541337.1:n.*135C>T
XM_011543035.2:c.*135C>T	XP_011541337.1:n.*135C>T
NM_032725.4:c.*135C>T MANE Select	NP_116114.1:n.*135C>T
NM_001159736.2:c.*135C>T	NP_001153208.1:n.*135C>T