Canonical Allele Identifier: CA601820350

Gene: BUD13

Linked Data

• dbSNP Id: rs1211445241
• gnomAD v2: 11-116626192-C-T
• gnomAD v3: 11-116755476-C-T
• gnomAD v4: 11-116755476-C-T
• MyVariant Identifiers: chr11:g.116626192C>T (hg19) ; chr11:g.116755476C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116755476C>T , CM000673.2:g.116755476C>T	GRCh38
NC_000011.9:g.116626192C>T , CM000673.1:g.116626192C>T	GRCh37
NC_000011.8:g.116131402C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.1766+1670G>A MANE Select	ENSP00000260210.3:n.1766+1670G>A
ENST00000260210.4:c.1766+1670G>A	ENSP00000260210.3:n.1766+1670G>A
ENST00000375445.7:c.1364+1670G>A	ENSP00000364594.3:n.1364+1670G>A
ENST00000419189.1:c.541+1670G>A
NM_001159736.1:c.1364+1670G>A	NP_001153208.1:n.1364+1670G>A
NM_032725.3:c.1766+1670G>A	NP_116114.1:n.1766+1670G>A
XM_011543035.1:c.1667+1670G>A	XP_011541337.1:n.1667+1670G>A
XM_011543035.2:c.1667+1670G>A	XP_011541337.1:n.1667+1670G>A
NM_032725.4:c.1766+1670G>A MANE Select	NP_116114.1:n.1766+1670G>A
NM_001159736.2:c.1364+1670G>A	NP_001153208.1:n.1364+1670G>A