Canonical Allele Identifier: CA672225392
Gene: BUD13 HGNC NCBI

Linked Data

dbSNP Id: rs1412529544
gnomAD v3: 11-116748421-T-G
gnomAD v4: 11-116748421-T-G
MyVariant Identifiers: chr11:g.116619137T>G (hg19) chr11:g.116748421T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748421T>G , CM000673.2:g.116748421T>G GRCh38
NC_000011.9:g.116619137T>G , CM000673.1:g.116619137T>G GRCh37
NC_000011.8:g.116124347T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.*61A>C MANE Select ENSP00000260210.3:n.*61A>C
ENST00000260210.4:c.*61A>C ENSP00000260210.3:n.*61A>C
ENST00000375445.7:c.*61A>C ENSP00000364594.3:n.*61A>C
ENST00000419189.1:c.696A>C
NM_001159736.1:c.*61A>C NP_001153208.1:n.*61A>C
NM_032725.3:c.*61A>C NP_116114.1:n.*61A>C
XM_011543035.1:c.*61A>C XP_011541337.1:n.*61A>C
XM_011543035.2:c.*61A>C XP_011541337.1:n.*61A>C
NM_032725.4:c.*61A>C MANE Select NP_116114.1:n.*61A>C
NM_001159736.2:c.*61A>C NP_001153208.1:n.*61A>C
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