Canonical Allele Identifier: CA380975296
Gene: B3GAT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62616588G>T , CM000673.2:g.62616588G>T GRCh38
NC_000011.9:g.62384060G>T , CM000673.1:g.62384060G>T GRCh37
NC_000011.8:g.62140636G>T NCBI36
NG_009845.1:g.8848G>T
NG_031863.1:g.10588C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265471.10:c.827C>A MANE Select ENSP00000265471.5:p.Pro276His
ENST00000265471.9:c.827C>A ENSP00000265471.5:p.Pro276His
ENST00000531383.5:c.827C>A ENSP00000431359.1:p.Pro276His
ENST00000532585.5:c.*949C>A ENSP00000432604.1:n.*949C>A
ENST00000534026.5:c.827C>A ENSP00000432474.1:p.Pro276His
NM_001288721.1:c.806C>A NP_001275650.1:p.Pro269His
NM_001288722.1:c.827C>A NP_001275651.1:p.Pro276His
NM_001288723.1:c.827C>A NP_001275652.1:p.Pro276His
NM_012200.3:c.827C>A NP_036332.2:p.Pro276His
NR_109991.1:n.1045C>A
XM_011544936.1:c.806C>A XP_011543238.1:p.Pro269His
NM_012200.4:c.827C>A MANE Select NP_036332.2:p.Pro276His
NM_001288721.2:c.806C>A NP_001275650.1:p.Pro269His
NM_001288722.2:c.827C>A NP_001275651.1:p.Pro276His
NM_001288723.2:c.827C>A NP_001275652.1:p.Pro276His
NR_109991.2:n.856C>A