Canonical Allele Identifier: CA380975407

Gene: B3GAT3

Linked Data

• gnomAD v4: 11-62616604-A-T
• MyVariant Identifiers: chr11:g.62384076A>T (hg19) ; chr11:g.62616604A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616604A>T , CM000673.2:g.62616604A>T	GRCh38
NC_000011.9:g.62384076A>T , CM000673.1:g.62384076A>T	GRCh37
NC_000011.8:g.62140652A>T	NCBI36
NG_009845.1:g.8864A>T
NG_031863.1:g.10572T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265471.10:c.811T>A MANE Select	ENSP00000265471.5:p.Phe271Ile
ENST00000265471.9:c.811T>A	ENSP00000265471.5:p.Phe271Ile
ENST00000531383.5:c.811T>A	ENSP00000431359.1:p.Phe271Ile
ENST00000532585.5:c.*933T>A	ENSP00000432604.1:n.*933T>A
ENST00000534026.5:c.811T>A	ENSP00000432474.1:p.Phe271Ile
NM_001288721.1:c.790T>A	NP_001275650.1:p.Phe264Ile
NM_001288722.1:c.811T>A	NP_001275651.1:p.Phe271Ile
NM_001288723.1:c.811T>A	NP_001275652.1:p.Phe271Ile
NM_012200.3:c.811T>A	NP_036332.2:p.Phe271Ile
NR_109991.1:n.1029T>A
XM_011544936.1:c.790T>A	XP_011543238.1:p.Phe264Ile
NM_012200.4:c.811T>A MANE Select	NP_036332.2:p.Phe271Ile
NM_001288721.2:c.790T>A	NP_001275650.1:p.Phe264Ile
NM_001288722.2:c.811T>A	NP_001275651.1:p.Phe271Ile
NM_001288723.2:c.811T>A	NP_001275652.1:p.Phe271Ile
NR_109991.2:n.840T>A