Canonical Allele Identifier: CA2616107535
Gene: BUD13 HGNC NCBI

Linked Data

gnomAD v4: 11-116748196-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748196T>C , CM000673.2:g.116748196T>C GRCh38
NC_000011.9:g.116618912T>C , CM000673.1:g.116618912T>C GRCh37
NC_000011.8:g.116124122T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.*286A>G MANE Select ENSP00000260210.3:n.*286A>G
ENST00000260210.4:c.*286A>G ENSP00000260210.3:n.*286A>G
ENST00000375445.7:c.*286A>G ENSP00000364594.3:n.*286A>G
ENST00000419189.1:c.921A>G
NM_001159736.1:c.*286A>G NP_001153208.1:n.*286A>G
NM_032725.3:c.*286A>G NP_116114.1:n.*286A>G
XM_011543035.1:c.*286A>G XP_011541337.1:n.*286A>G
XM_011543035.2:c.*286A>G XP_011541337.1:n.*286A>G
NM_032725.4:c.*286A>G MANE Select NP_116114.1:n.*286A>G
NM_001159736.2:c.*286A>G NP_001153208.1:n.*286A>G
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