Canonical Allele Identifier: CA380977035

Gene: B3GAT3

Linked Data

• MyVariant Identifiers: chr11:g.62384658G>C (hg19) ; chr11:g.62617186G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62617186G>C , CM000673.2:g.62617186G>C	GRCh38
NC_000011.9:g.62384658G>C , CM000673.1:g.62384658G>C	GRCh37
NC_000011.8:g.62141234G>C	NCBI36
NG_031863.1:g.9990C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265471.10:c.419C>G MANE Select	ENSP00000265471.5:p.Pro140Arg
ENST00000265471.9:c.419C>G	ENSP00000265471.5:p.Pro140Arg
ENST00000531383.5:c.419C>G	ENSP00000431359.1:p.Pro140Arg
ENST00000532585.5:c.*541C>G	ENSP00000432604.1:n.*541C>G
ENST00000533303.1:n.269C>G
ENST00000534026.5:c.419C>G	ENSP00000432474.1:p.Pro140Arg
ENST00000534715.1:c.488C>G	ENSP00000432854.1:p.Pro163Arg
NM_001288721.1:c.398C>G	NP_001275650.1:p.Pro133Arg
NM_001288722.1:c.419C>G	NP_001275651.1:p.Pro140Arg
NM_001288723.1:c.419C>G	NP_001275652.1:p.Pro140Arg
NM_012200.3:c.419C>G	NP_036332.2:p.Pro140Arg
NR_109991.1:n.637C>G
XM_011544936.1:c.398C>G	XP_011543238.1:p.Pro133Arg
NM_012200.4:c.419C>G MANE Select	NP_036332.2:p.Pro140Arg
NM_001288721.2:c.398C>G	NP_001275650.1:p.Pro133Arg
NM_001288722.2:c.419C>G	NP_001275651.1:p.Pro140Arg
NM_001288723.2:c.419C>G	NP_001275652.1:p.Pro140Arg
NR_109991.2:n.448C>G