Canonical Allele Identifier: CA380975412
Gene: B3GAT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62616605T>G , CM000673.2:g.62616605T>G GRCh38
NC_000011.9:g.62384077T>G , CM000673.1:g.62384077T>G GRCh37
NC_000011.8:g.62140653T>G NCBI36
NG_009845.1:g.8865T>G
NG_031863.1:g.10571A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265471.10:c.810A>C MANE Select ENSP00000265471.5:p.Gln270His
ENST00000265471.9:c.810A>C ENSP00000265471.5:p.Gln270His
ENST00000531383.5:c.810A>C ENSP00000431359.1:p.Gln270His
ENST00000532585.5:c.*932A>C ENSP00000432604.1:n.*932A>C
ENST00000534026.5:c.810A>C ENSP00000432474.1:p.Gln270His
NM_001288721.1:c.789A>C NP_001275650.1:p.Gln263His
NM_001288722.1:c.810A>C NP_001275651.1:p.Gln270His
NM_001288723.1:c.810A>C NP_001275652.1:p.Gln270His
NM_012200.3:c.810A>C NP_036332.2:p.Gln270His
NR_109991.1:n.1028A>C
XM_011544936.1:c.789A>C XP_011543238.1:p.Gln263His
NM_012200.4:c.810A>C MANE Select NP_036332.2:p.Gln270His
NM_001288721.2:c.789A>C NP_001275650.1:p.Gln263His
NM_001288722.2:c.810A>C NP_001275651.1:p.Gln270His
NM_001288723.2:c.810A>C NP_001275652.1:p.Gln270His
NR_109991.2:n.839A>C