Canonical Allele Identifier: CA382695182

Gene: BUD13

Linked Data

• gnomAD v4: 11-116748540-A-C
• MyVariant Identifiers: chr11:g.116619256A>C (hg19) ; chr11:g.116748540A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116748540A>C , CM000673.2:g.116748540A>C	GRCh38
NC_000011.9:g.116619256A>C , CM000673.1:g.116619256A>C	GRCh37
NC_000011.8:g.116124466A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.1802T>G MANE Select	ENSP00000260210.3:p.Leu601Arg
ENST00000260210.4:c.1802T>G	ENSP00000260210.3:p.Leu601Arg
ENST00000375445.7:c.1400T>G	ENSP00000364594.3:p.Leu467Arg
ENST00000419189.1:c.577T>G
NM_001159736.1:c.1400T>G	NP_001153208.1:p.Leu467Arg
NM_032725.3:c.1802T>G	NP_116114.1:p.Leu601Arg
XM_011543035.1:c.1703T>G	XP_011541337.1:p.Leu568Arg
XM_011543035.2:c.1703T>G	XP_011541337.1:p.Leu568Arg
NM_032725.4:c.1802T>G MANE Select	NP_116114.1:p.Leu601Arg
NM_001159736.2:c.1400T>G	NP_001153208.1:p.Leu467Arg