Canonical Allele Identifier: CA6050037
Community Standard Title: NM_012200.4(B3GAT3):c.667G>A (p.Gly223Ser)
Gene: B3GAT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62616748C>T , CM000673.2:g.62616748C>T GRCh38
NC_000011.9:g.62384220C>T , CM000673.1:g.62384220C>T GRCh37
NC_000011.8:g.62140796C>T NCBI36
NG_009845.1:g.9008C>T
NG_031863.1:g.10428G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012200.4:c.667G>A MANE Select NP_036332.2:p.Gly223Ser
ENST00000265471.10:c.667G>A MANE Select ENSP00000265471.5:p.Gly223Ser
NM_001288721.1:c.646G>A NP_001275650.1:p.Gly216Ser
NM_001288721.2:c.646G>A NP_001275650.1:p.Gly216Ser
NM_001288722.1:c.667G>A NP_001275651.1:p.Gly223Ser
NM_001288722.2:c.667G>A NP_001275651.1:p.Gly223Ser
NM_001288723.1:c.667G>A NP_001275652.1:p.Gly223Ser
NM_001288723.2:c.667G>A NP_001275652.1:p.Gly223Ser
NM_012200.3:c.667G>A NP_036332.2:p.Gly223Ser
NR_109991.1:n.885G>A
NR_109991.2:n.696G>A
ENST00000265471.9:c.667G>A ENSP00000265471.5:p.Gly223Ser
ENST00000531383.5:c.667G>A ENSP00000431359.1:p.Gly223Ser
ENST00000532585.5:c.*789G>A ENSP00000432604.1:n.*789G>A
ENST00000533303.1:n.517G>A
ENST00000534026.5:c.667G>A ENSP00000432474.1:p.Gly223Ser
XM_011544936.1:c.646G>A XP_011543238.1:p.Gly216Ser