Canonical Allele Identifier: CA380977208

Gene: B3GAT3

Linked Data

• COSMIC: COSM6247460
• MyVariant Identifiers: chr11:g.62384746C>A (hg19) ; chr11:g.62617274C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62617274C>A , CM000673.2:g.62617274C>A	GRCh38
NC_000011.9:g.62384746C>A , CM000673.1:g.62384746C>A	GRCh37
NC_000011.8:g.62141322C>A	NCBI36
NG_031863.1:g.9902G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265471.10:c.331G>T MANE Select	ENSP00000265471.5:p.Val111Leu
ENST00000265471.9:c.331G>T	ENSP00000265471.5:p.Val111Leu
ENST00000531383.5:c.331G>T	ENSP00000431359.1:p.Val111Leu
ENST00000532585.5:c.*453G>T	ENSP00000432604.1:n.*453G>T
ENST00000533303.1:n.181G>T
ENST00000534026.5:c.331G>T	ENSP00000432474.1:p.Val111Leu
ENST00000534715.1:c.400G>T	ENSP00000432854.1:p.Val134Leu
NM_001288721.1:c.310G>T	NP_001275650.1:p.Val104Leu
NM_001288722.1:c.331G>T	NP_001275651.1:p.Val111Leu
NM_001288723.1:c.331G>T	NP_001275652.1:p.Val111Leu
NM_012200.3:c.331G>T	NP_036332.2:p.Val111Leu
NR_109991.1:n.549G>T
XM_011544936.1:c.310G>T	XP_011543238.1:p.Val104Leu
NM_012200.4:c.331G>T MANE Select	NP_036332.2:p.Val111Leu
NM_001288721.2:c.310G>T	NP_001275650.1:p.Val104Leu
NM_001288722.2:c.331G>T	NP_001275651.1:p.Val111Leu
NM_001288723.2:c.331G>T	NP_001275652.1:p.Val111Leu
NR_109991.2:n.360G>T