Canonical Allele Identifier: CA475129335
Gene: B3GAT3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.62384007G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62616535G>A , CM000673.2:g.62616535G>A GRCh38
NC_000011.9:g.62384007G>A , CM000673.1:g.62384007G>A GRCh37
NC_000011.8:g.62140583G>A NCBI36
NG_009845.1:g.8795G>A
NG_031863.1:g.10641C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265471.10:c.880C>T MANE Select ENSP00000265471.5:p.Leu294=
ENST00000265471.9:c.880C>T ENSP00000265471.5:p.Leu294=
ENST00000531383.5:c.880C>T ENSP00000431359.1:p.Leu294=
ENST00000532585.5:c.*1002C>T ENSP00000432604.1:n.*1002C>T
ENST00000534026.5:c.880C>T ENSP00000432474.1:p.Leu294=
NM_001288721.1:c.859C>T NP_001275650.1:p.Leu287=
NM_001288722.1:c.880C>T NP_001275651.1:p.Leu294=
NM_001288723.1:c.880C>T NP_001275652.1:p.Leu294=
NM_012200.3:c.880C>T NP_036332.2:p.Leu294=
NR_109991.1:n.1098C>T
XM_011544936.1:c.859C>T XP_011543238.1:p.Leu287=
NM_012200.4:c.880C>T MANE Select NP_036332.2:p.Leu294=
NM_001288721.2:c.859C>T NP_001275650.1:p.Leu287=
NM_001288722.2:c.880C>T NP_001275651.1:p.Leu294=
NM_001288723.2:c.880C>T NP_001275652.1:p.Leu294=
NR_109991.2:n.909C>T