Canonical Allele Identifier: CA13553391
Gene: B3GAT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134396073T>G , CM000673.2:g.134396073T>G GRCh38
NC_000011.9:g.134265967T>G , CM000673.1:g.134265967T>G GRCh37
NC_000011.8:g.133771177T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000312527.9:c.-281-8133A>C MANE Select ENSP00000307875.4:n.-281-8133A>C
ENST00000312527.8:c.-281-8133A>C ENSP00000307875.4:n.-281-8133A>C
ENST00000392580.5:c.-149-8133A>C ENSP00000376359.1:n.-149-8133A>C
ENST00000531510.1:n.175-8133A>C
NM_018644.3:c.-149-8133A>C NP_061114.2:n.-149-8133A>C
NM_054025.2:c.-281-8133A>C NP_473366.1:n.-281-8133A>C
XM_005271506.2:c.-93-8133A>C XP_005271563.1:n.-93-8133A>C
XM_011542751.1:c.-322-2259A>C XP_011541053.1:n.-322-2259A>C
XM_011542752.1:c.-325-2256A>C XP_011541054.1:n.-325-2256A>C
XM_011542753.1:c.-322-2259A>C XP_011541055.1:n.-322-2259A>C
XM_011542754.1:c.-378-2259A>C XP_011541056.1:n.-378-2259A>C
XM_011542755.1:c.-281-8133A>C XP_011541057.1:n.-281-8133A>C
XM_005271506.3:c.-93-8133A>C XP_005271563.1:n.-93-8133A>C
XM_011542751.3:c.-322-2259A>C XP_011541053.1:n.-322-2259A>C
XM_011542753.2:c.-322-2259A>C XP_011541055.1:n.-322-2259A>C
XM_017017551.2:c.-93-8133A>C XP_016873040.1:n.-93-8133A>C
NM_001367973.1:c.-93-8133A>C NP_001354902.1:n.-93-8133A>C
NM_054025.3:c.-281-8133A>C MANE Select NP_473366.1:n.-281-8133A>C
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