Canonical Allele Identifier: CA380974985

Gene: B3GAT3

Linked Data

• MyVariant Identifiers: chr11:g.62384008G>C (hg19) ; chr11:g.62616536G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616536G>C , CM000673.2:g.62616536G>C	GRCh38
NC_000011.9:g.62384008G>C , CM000673.1:g.62384008G>C	GRCh37
NC_000011.8:g.62140584G>C	NCBI36
NG_009845.1:g.8796G>C
NG_031863.1:g.10640C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.879C>G MANE Select	ENSP00000265471.5:p.Asp293Glu
ENST00000265471.9:c.879C>G	ENSP00000265471.5:p.Asp293Glu
ENST00000531383.5:c.879C>G	ENSP00000431359.1:p.Asp293Glu
ENST00000532585.5:c.*1001C>G	ENSP00000432604.1:n.*1001C>G
ENST00000534026.5:c.879C>G	ENSP00000432474.1:p.Asp293Glu
NM_001288721.1:c.858C>G	NP_001275650.1:p.Asp286Glu
NM_001288722.1:c.879C>G	NP_001275651.1:p.Asp293Glu
NM_001288723.1:c.879C>G	NP_001275652.1:p.Asp293Glu
NM_012200.3:c.879C>G	NP_036332.2:p.Asp293Glu
NR_109991.1:n.1097C>G
XM_011544936.1:c.858C>G	XP_011543238.1:p.Asp286Glu
NM_012200.4:c.879C>G MANE Select	NP_036332.2:p.Asp293Glu
NM_001288721.2:c.858C>G	NP_001275650.1:p.Asp286Glu
NM_001288722.2:c.879C>G	NP_001275651.1:p.Asp293Glu
NM_001288723.2:c.879C>G	NP_001275652.1:p.Asp293Glu
NR_109991.2:n.908C>G