Canonical Allele Identifier: CA380975022

Gene: B3GAT3

Linked Data

• MyVariant Identifiers: chr11:g.62384019C>G (hg19) ; chr11:g.62616547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616547C>G , CM000673.2:g.62616547C>G	GRCh38
NC_000011.9:g.62384019C>G , CM000673.1:g.62384019C>G	GRCh37
NC_000011.8:g.62140595C>G	NCBI36
NG_009845.1:g.8807C>G
NG_031863.1:g.10629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.868G>C MANE Select	ENSP00000265471.5:p.Asp290His
ENST00000265471.9:c.868G>C	ENSP00000265471.5:p.Asp290His
ENST00000531383.5:c.868G>C	ENSP00000431359.1:p.Asp290His
ENST00000532585.5:c.*990G>C	ENSP00000432604.1:n.*990G>C
ENST00000534026.5:c.868G>C	ENSP00000432474.1:p.Asp290His
NM_001288721.1:c.847G>C	NP_001275650.1:p.Asp283His
NM_001288722.1:c.868G>C	NP_001275651.1:p.Asp290His
NM_001288723.1:c.868G>C	NP_001275652.1:p.Asp290His
NM_012200.3:c.868G>C	NP_036332.2:p.Asp290His
NR_109991.1:n.1086G>C
XM_011544936.1:c.847G>C	XP_011543238.1:p.Asp283His
NM_012200.4:c.868G>C MANE Select	NP_036332.2:p.Asp290His
NM_001288721.2:c.847G>C	NP_001275650.1:p.Asp283His
NM_001288722.2:c.868G>C	NP_001275651.1:p.Asp290His
NM_001288723.2:c.868G>C	NP_001275652.1:p.Asp290His
NR_109991.2:n.897G>C