Canonical Allele Identifier: CA380977230

Gene: B3GAT3

Linked Data

• gnomAD v4: 11-62617284-A-T
• MyVariant Identifiers: chr11:g.62384756A>T (hg19) ; chr11:g.62617284A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62617284A>T , CM000673.2:g.62617284A>T	GRCh38
NC_000011.9:g.62384756A>T , CM000673.1:g.62384756A>T	GRCh37
NC_000011.8:g.62141332A>T	NCBI36
NG_031863.1:g.9892T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265471.10:c.321T>A MANE Select	ENSP00000265471.5:p.His107Gln
ENST00000265471.9:c.321T>A	ENSP00000265471.5:p.His107Gln
ENST00000531383.5:c.321T>A	ENSP00000431359.1:p.His107Gln
ENST00000532585.5:c.*443T>A	ENSP00000432604.1:n.*443T>A
ENST00000533303.1:n.171T>A
ENST00000534026.5:c.321T>A	ENSP00000432474.1:p.His107Gln
ENST00000534715.1:c.390T>A	ENSP00000432854.1:p.His130Gln
NM_001288721.1:c.300T>A	NP_001275650.1:p.His100Gln
NM_001288722.1:c.321T>A	NP_001275651.1:p.His107Gln
NM_001288723.1:c.321T>A	NP_001275652.1:p.His107Gln
NM_012200.3:c.321T>A	NP_036332.2:p.His107Gln
NR_109991.1:n.539T>A
XM_011544936.1:c.300T>A	XP_011543238.1:p.His100Gln
NM_012200.4:c.321T>A MANE Select	NP_036332.2:p.His107Gln
NM_001288721.2:c.300T>A	NP_001275650.1:p.His100Gln
NM_001288722.2:c.321T>A	NP_001275651.1:p.His107Gln
NM_001288723.2:c.321T>A	NP_001275652.1:p.His107Gln
NR_109991.2:n.350T>A