Canonical Allele Identifier: CA6287877
Gene: BUD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2374265
ClinVar RCV Id: RCV004208371
dbSNP Id: rs748728060
ExAC: 11:116619269 G / A
gnomAD v2: 11-116619269-G-A
gnomAD v3: 11-116748553-G-A
gnomAD v4: 11-116748553-G-A
MyVariant Identifiers: chr11:g.116619269G>A (hg19) chr11:g.116748553G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748553G>A , CM000673.2:g.116748553G>A GRCh38
NC_000011.9:g.116619269G>A , CM000673.1:g.116619269G>A GRCh37
NC_000011.8:g.116124479G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.1789C>T MANE Select ENSP00000260210.3:p.Arg597Cys
ENST00000260210.4:c.1789C>T ENSP00000260210.3:p.Arg597Cys
ENST00000375445.7:c.1387C>T ENSP00000364594.3:p.Arg463Cys
ENST00000419189.1:c.564C>T
NM_001159736.1:c.1387C>T NP_001153208.1:p.Arg463Cys
NM_032725.3:c.1789C>T NP_116114.1:p.Arg597Cys
XM_011543035.1:c.1690C>T XP_011541337.1:p.Arg564Cys
XM_011543035.2:c.1690C>T XP_011541337.1:p.Arg564Cys
NM_032725.4:c.1789C>T MANE Select NP_116114.1:p.Arg597Cys
NM_001159736.2:c.1387C>T NP_001153208.1:p.Arg463Cys
Search 100 bp 5'
Search 100 bp 3'