Canonical Allele Identifier: CA476866923
Gene: BUD13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.116619252G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748536G>T , CM000673.2:g.116748536G>T GRCh38
NC_000011.9:g.116619252G>T , CM000673.1:g.116619252G>T GRCh37
NC_000011.8:g.116124462G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.1806C>A MANE Select ENSP00000260210.3:p.Ala602=
ENST00000260210.4:c.1806C>A ENSP00000260210.3:p.Ala602=
ENST00000375445.7:c.1404C>A ENSP00000364594.3:p.Ala468=
ENST00000419189.1:c.581C>A
NM_001159736.1:c.1404C>A NP_001153208.1:p.Ala468=
NM_032725.3:c.1806C>A NP_116114.1:p.Ala602=
XM_011543035.1:c.1707C>A XP_011541337.1:p.Ala569=
XM_011543035.2:c.1707C>A XP_011541337.1:p.Ala569=
NM_032725.4:c.1806C>A MANE Select NP_116114.1:p.Ala602=
NM_001159736.2:c.1404C>A NP_001153208.1:p.Ala468=