Canonical Allele Identifier: CA380977239

Gene: B3GAT3

Linked Data

• MyVariant Identifiers: chr11:g.62384760A>G (hg19) ; chr11:g.62617288A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62617288A>G , CM000673.2:g.62617288A>G	GRCh38
NC_000011.9:g.62384760A>G , CM000673.1:g.62384760A>G	GRCh37
NC_000011.8:g.62141336A>G	NCBI36
NG_031863.1:g.9888T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265471.10:c.317T>C MANE Select	ENSP00000265471.5:p.Leu106Pro
ENST00000265471.9:c.317T>C	ENSP00000265471.5:p.Leu106Pro
ENST00000531383.5:c.317T>C	ENSP00000431359.1:p.Leu106Pro
ENST00000532585.5:c.*439T>C	ENSP00000432604.1:n.*439T>C
ENST00000533303.1:n.167T>C
ENST00000534026.5:c.317T>C	ENSP00000432474.1:p.Leu106Pro
ENST00000534715.1:c.386T>C	ENSP00000432854.1:p.Leu129Pro
NM_001288721.1:c.296T>C	NP_001275650.1:p.Leu99Pro
NM_001288722.1:c.317T>C	NP_001275651.1:p.Leu106Pro
NM_001288723.1:c.317T>C	NP_001275652.1:p.Leu106Pro
NM_012200.3:c.317T>C	NP_036332.2:p.Leu106Pro
NR_109991.1:n.535T>C
XM_011544936.1:c.296T>C	XP_011543238.1:p.Leu99Pro
NM_012200.4:c.317T>C MANE Select	NP_036332.2:p.Leu106Pro
NM_001288721.2:c.296T>C	NP_001275650.1:p.Leu99Pro
NM_001288722.2:c.317T>C	NP_001275651.1:p.Leu106Pro
NM_001288723.2:c.317T>C	NP_001275652.1:p.Leu106Pro
NR_109991.2:n.346T>C