Canonical Allele Identifier: CA380977219

Gene: B3GAT3

Linked Data

• ClinVar Variation Id: 1472368
• ClinVar RCV Id: RCV002002867
• dbSNP Id: rs1943052698
• gnomAD v4: 11-62617280-G-C
• MyVariant Identifiers: chr11:g.62384752G>C (hg19) ; chr11:g.62617280G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62617280G>C , CM000673.2:g.62617280G>C	GRCh38
NC_000011.9:g.62384752G>C , CM000673.1:g.62384752G>C	GRCh37
NC_000011.8:g.62141328G>C	NCBI36
NG_031863.1:g.9896C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265471.10:c.325C>G MANE Select	ENSP00000265471.5:p.Leu109Val
ENST00000265471.9:c.325C>G	ENSP00000265471.5:p.Leu109Val
ENST00000531383.5:c.325C>G	ENSP00000431359.1:p.Leu109Val
ENST00000532585.5:c.*447C>G	ENSP00000432604.1:n.*447C>G
ENST00000533303.1:n.175C>G
ENST00000534026.5:c.325C>G	ENSP00000432474.1:p.Leu109Val
ENST00000534715.1:c.394C>G	ENSP00000432854.1:p.Leu132Val
NM_001288721.1:c.304C>G	NP_001275650.1:p.Leu102Val
NM_001288722.1:c.325C>G	NP_001275651.1:p.Leu109Val
NM_001288723.1:c.325C>G	NP_001275652.1:p.Leu109Val
NM_012200.3:c.325C>G	NP_036332.2:p.Leu109Val
NR_109991.1:n.543C>G
XM_011544936.1:c.304C>G	XP_011543238.1:p.Leu102Val
NM_012200.4:c.325C>G MANE Select	NP_036332.2:p.Leu109Val
NM_001288721.2:c.304C>G	NP_001275650.1:p.Leu102Val
NM_001288722.2:c.325C>G	NP_001275651.1:p.Leu109Val
NM_001288723.2:c.325C>G	NP_001275652.1:p.Leu109Val
NR_109991.2:n.354C>G