Canonical Allele Identifier: CA382695055
Gene: BUD13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748485C>G , CM000673.2:g.116748485C>G GRCh38
NC_000011.9:g.116619201C>G , CM000673.1:g.116619201C>G GRCh37
NC_000011.8:g.116124411C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.1857G>C MANE Select ENSP00000260210.3:p.Met619Ile
ENST00000260210.4:c.1857G>C ENSP00000260210.3:p.Met619Ile
ENST00000375445.7:c.1455G>C ENSP00000364594.3:p.Met485Ile
ENST00000419189.1:c.632G>C
NM_001159736.1:c.1455G>C NP_001153208.1:p.Met485Ile
NM_032725.3:c.1857G>C NP_116114.1:p.Met619Ile
XM_011543035.1:c.1758G>C XP_011541337.1:p.Met586Ile
XM_011543035.2:c.1758G>C XP_011541337.1:p.Met586Ile
NM_032725.4:c.1857G>C MANE Select NP_116114.1:p.Met619Ile
NM_001159736.2:c.1455G>C NP_001153208.1:p.Met485Ile