Canonical Allele Identifier: CA380974920

Gene: B3GAT3

Linked Data

• MyVariant Identifiers: chr11:g.62383992C>A (hg19) ; chr11:g.62616520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616520C>A , CM000673.2:g.62616520C>A	GRCh38
NC_000011.9:g.62383992C>A , CM000673.1:g.62383992C>A	GRCh37
NC_000011.8:g.62140568C>A	NCBI36
NG_009845.1:g.8780C>A
NG_031863.1:g.10656G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.895G>T MANE Select	ENSP00000265471.5:p.Ala299Ser
ENST00000265471.9:c.895G>T	ENSP00000265471.5:p.Ala299Ser
ENST00000531383.5:c.895G>T	ENSP00000431359.1:p.Ala299Ser
ENST00000532585.5:c.*1017G>T	ENSP00000432604.1:n.*1017G>T
ENST00000534026.5:c.895G>T	ENSP00000432474.1:p.Ala299Ser
NM_001288721.1:c.874G>T	NP_001275650.1:p.Ala292Ser
NM_001288722.1:c.895G>T	NP_001275651.1:p.Ala299Ser
NM_001288723.1:c.895G>T	NP_001275652.1:p.Ala299Ser
NM_012200.3:c.895G>T	NP_036332.2:p.Ala299Ser
NR_109991.1:n.1113G>T
XM_011544936.1:c.874G>T	XP_011543238.1:p.Ala292Ser
NM_012200.4:c.895G>T MANE Select	NP_036332.2:p.Ala299Ser
NM_001288721.2:c.874G>T	NP_001275650.1:p.Ala292Ser
NM_001288722.2:c.895G>T	NP_001275651.1:p.Ala299Ser
NM_001288723.2:c.895G>T	NP_001275652.1:p.Ala299Ser
NR_109991.2:n.924G>T