Canonical Allele Identifier: CA380977210
Gene: B3GAT3 HGNC NCBI

Linked Data

ClinVar Variation Id: 427040
ClinVar RCV Id: RCV000489230
dbSNP Id: rs1085307917

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000265471.10:c.331G>A MANE Select ENSP00000265471.5:p.Val111Met
ENST00000265471.9:c.331G>A ENSP00000265471.5:p.Val111Met
ENST00000531383.5:c.331G>A ENSP00000431359.1:p.Val111Met
ENST00000532585.5:c.*453G>A ENSP00000432604.1:n.*453G>A
ENST00000533303.1:n.181G>A
ENST00000534026.5:c.331G>A ENSP00000432474.1:p.Val111Met
ENST00000534715.1:c.400G>A ENSP00000432854.1:p.Val134Met
NM_001288721.1:c.310G>A NP_001275650.1:p.Val104Met
NM_001288722.1:c.331G>A NP_001275651.1:p.Val111Met
NM_001288723.1:c.331G>A NP_001275652.1:p.Val111Met
NM_012200.3:c.331G>A NP_036332.2:p.Val111Met
NR_109991.1:n.549G>A
XM_011544936.1:c.310G>A XP_011543238.1:p.Val104Met
NM_012200.4:c.331G>A MANE Select NP_036332.2:p.Val111Met
NM_001288721.2:c.310G>A NP_001275650.1:p.Val104Met
NM_001288722.2:c.331G>A NP_001275651.1:p.Val111Met
NM_001288723.2:c.331G>A NP_001275652.1:p.Val111Met
NR_109991.2:n.360G>A