Canonical Allele Identifier: CA2002715083
Gene: BUD13 HGNC NCBI

Linked Data

dbSNP Id: rs1940305822

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116755442A>G , CM000673.2:g.116755442A>G GRCh38
NC_000011.9:g.116626158A>G , CM000673.1:g.116626158A>G GRCh37
NC_000011.8:g.116131368A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.1766+1704T>C MANE Select ENSP00000260210.3:n.1766+1704T>C
ENST00000260210.4:c.1766+1704T>C ENSP00000260210.3:n.1766+1704T>C
ENST00000375445.7:c.1364+1704T>C ENSP00000364594.3:n.1364+1704T>C
ENST00000419189.1:c.541+1704T>C
NM_001159736.1:c.1364+1704T>C NP_001153208.1:n.1364+1704T>C
NM_032725.3:c.1766+1704T>C NP_116114.1:n.1766+1704T>C
XM_011543035.1:c.1667+1704T>C XP_011541337.1:n.1667+1704T>C
XM_011543035.2:c.1667+1704T>C XP_011541337.1:n.1667+1704T>C
NM_032725.4:c.1766+1704T>C MANE Select NP_116114.1:n.1766+1704T>C
NM_001159736.2:c.1364+1704T>C NP_001153208.1:n.1364+1704T>C