Canonical Allele Identifier: CA380974901

Gene: B3GAT3

Linked Data

• dbSNP Id: rs1435753193
• gnomAD v2: 11-62383985-C-T
• gnomAD v4: 11-62616513-C-T
• MyVariant Identifiers: chr11:g.62383985C>T (hg19) ; chr11:g.62616513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616513C>T , CM000673.2:g.62616513C>T	GRCh38
NC_000011.9:g.62383985C>T , CM000673.1:g.62383985C>T	GRCh37
NC_000011.8:g.62140561C>T	NCBI36
NG_009845.1:g.8773C>T
NG_031863.1:g.10663G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.902G>A MANE Select	ENSP00000265471.5:p.Cys301Tyr
ENST00000265471.9:c.902G>A	ENSP00000265471.5:p.Cys301Tyr
ENST00000531383.5:c.902G>A	ENSP00000431359.1:p.Cys301Tyr
ENST00000532585.5:c.*1024G>A	ENSP00000432604.1:n.*1024G>A
ENST00000534026.5:c.902G>A	ENSP00000432474.1:p.Cys301Tyr
NM_001288721.1:c.881G>A	NP_001275650.1:p.Cys294Tyr
NM_001288722.1:c.902G>A	NP_001275651.1:p.Cys301Tyr
NM_001288723.1:c.902G>A	NP_001275652.1:p.Cys301Tyr
NM_012200.3:c.902G>A	NP_036332.2:p.Cys301Tyr
NR_109991.1:n.1120G>A
XM_011544936.1:c.881G>A	XP_011543238.1:p.Cys294Tyr
NM_012200.4:c.902G>A MANE Select	NP_036332.2:p.Cys301Tyr
NM_001288721.2:c.881G>A	NP_001275650.1:p.Cys294Tyr
NM_001288722.2:c.902G>A	NP_001275651.1:p.Cys301Tyr
NM_001288723.2:c.902G>A	NP_001275652.1:p.Cys301Tyr
NR_109991.2:n.931G>A