Canonical Allele Identifier: CA2613973889

Gene: B3GAT3

Linked Data

• gnomAD v4: 11-62616453-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616453C>A , CM000673.2:g.62616453C>A	GRCh38
NC_000011.9:g.62383925C>A , CM000673.1:g.62383925C>A	GRCh37
NC_000011.8:g.62140501C>A	NCBI36
NG_009845.1:g.8713C>A
NG_031863.1:g.10723G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.909+53G>T MANE Select	ENSP00000265471.5:n.909+53G>T
ENST00000265471.9:c.909+53G>T	ENSP00000265471.5:n.909+53G>T
ENST00000531383.5:c.909+53G>T	ENSP00000431359.1:n.909+53G>T
ENST00000532585.5:c.*1031+53G>T	ENSP00000432604.1:n.*1031+53G>T
ENST00000534026.5:c.909+53G>T	ENSP00000432474.1:n.909+53G>T
NM_001288721.1:c.888+53G>T	NP_001275650.1:n.888+53G>T
NM_001288722.1:c.909+53G>T	NP_001275651.1:n.909+53G>T
NM_001288723.1:c.909+53G>T	NP_001275652.1:n.909+53G>T
NM_012200.3:c.909+53G>T	NP_036332.2:n.909+53G>T
NR_109991.1:n.1127+53G>T
XM_011544936.1:c.888+53G>T	XP_011543238.1:n.888+53G>T
NM_012200.4:c.909+53G>T MANE Select	NP_036332.2:n.909+53G>T
NM_001288721.2:c.888+53G>T	NP_001275650.1:n.888+53G>T
NM_001288722.2:c.909+53G>T	NP_001275651.1:n.909+53G>T
NM_001288723.2:c.909+53G>T	NP_001275652.1:n.909+53G>T
NR_109991.2:n.938+53G>T