Canonical Allele Identifier: CA2616107652
Gene: BUD13 HGNC NCBI

Linked Data

gnomAD v4: 11-116748359-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748359G>T , CM000673.2:g.116748359G>T GRCh38
NC_000011.9:g.116619075G>T , CM000673.1:g.116619075G>T GRCh37
NC_000011.8:g.116124285G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000260210.5:c.*123C>A MANE Select ENSP00000260210.3:n.*123C>A
ENST00000260210.4:c.*123C>A ENSP00000260210.3:n.*123C>A
ENST00000375445.7:c.*123C>A ENSP00000364594.3:n.*123C>A
ENST00000419189.1:c.758C>A
NM_001159736.1:c.*123C>A NP_001153208.1:n.*123C>A
NM_032725.3:c.*123C>A NP_116114.1:n.*123C>A
XM_011543035.1:c.*123C>A XP_011541337.1:n.*123C>A
XM_011543035.2:c.*123C>A XP_011541337.1:n.*123C>A
NM_032725.4:c.*123C>A MANE Select NP_116114.1:n.*123C>A
NM_001159736.2:c.*123C>A NP_001153208.1:n.*123C>A
Search 100 bp 5'
Search 100 bp 3'