Canonical Allele Identifier: CA380976031
Community Standard Title: NM_012200.4(B3GAT3):c.707T>A (p.Val236Glu)
Gene: B3GAT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62616708A>T , CM000673.2:g.62616708A>T GRCh38
NC_000011.9:g.62384180A>T , CM000673.1:g.62384180A>T GRCh37
NC_000011.8:g.62140756A>T NCBI36
NG_009845.1:g.8968A>T
NG_031863.1:g.10468T>A

Transcript Alleles

HGVS Amino-acid Change
NM_012200.4:c.707T>A MANE Select NP_036332.2:p.Val236Glu
ENST00000265471.10:c.707T>A MANE Select ENSP00000265471.5:p.Val236Glu
NM_001288721.1:c.686T>A NP_001275650.1:p.Val229Glu
NM_001288721.2:c.686T>A NP_001275650.1:p.Val229Glu
NM_001288722.1:c.707T>A NP_001275651.1:p.Val236Glu
NM_001288722.2:c.707T>A NP_001275651.1:p.Val236Glu
NM_001288723.1:c.707T>A NP_001275652.1:p.Val236Glu
NM_001288723.2:c.707T>A NP_001275652.1:p.Val236Glu
NM_012200.3:c.707T>A NP_036332.2:p.Val236Glu
NR_109991.1:n.925T>A
NR_109991.2:n.736T>A
ENST00000265471.9:c.707T>A ENSP00000265471.5:p.Val236Glu
ENST00000531383.5:c.707T>A ENSP00000431359.1:p.Val236Glu
ENST00000532585.5:c.*829T>A ENSP00000432604.1:n.*829T>A
ENST00000533303.1:n.557T>A
ENST00000534026.5:c.707T>A ENSP00000432474.1:p.Val236Glu
XM_011544936.1:c.686T>A XP_011543238.1:p.Val229Glu