Canonical Allele Identifier: CA6049979

Gene: B3GAT3

Linked Data

• dbSNP Id: rs769306390
• ExAC: 11:62383948 A / C
• gnomAD v2: 11-62383948-A-C
• gnomAD v4: 11-62616476-A-C
• MyVariant Identifiers: chr11:g.62383948A>C (hg19) ; chr11:g.62616476A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616476A>C , CM000673.2:g.62616476A>C	GRCh38
NC_000011.9:g.62383948A>C , CM000673.1:g.62383948A>C	GRCh37
NC_000011.8:g.62140524A>C	NCBI36
NG_009845.1:g.8736A>C
NG_031863.1:g.10700T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.909+30T>G MANE Select	ENSP00000265471.5:n.909+30T>G
ENST00000265471.9:c.909+30T>G	ENSP00000265471.5:n.909+30T>G
ENST00000531383.5:c.909+30T>G	ENSP00000431359.1:n.909+30T>G
ENST00000532585.5:c.*1031+30T>G	ENSP00000432604.1:n.*1031+30T>G
ENST00000534026.5:c.909+30T>G	ENSP00000432474.1:n.909+30T>G
NM_001288721.1:c.888+30T>G	NP_001275650.1:n.888+30T>G
NM_001288722.1:c.909+30T>G	NP_001275651.1:n.909+30T>G
NM_001288723.1:c.909+30T>G	NP_001275652.1:n.909+30T>G
NM_012200.3:c.909+30T>G	NP_036332.2:n.909+30T>G
NR_109991.1:n.1127+30T>G
XM_011544936.1:c.888+30T>G	XP_011543238.1:n.888+30T>G
NM_012200.4:c.909+30T>G MANE Select	NP_036332.2:n.909+30T>G
NM_001288721.2:c.888+30T>G	NP_001275650.1:n.888+30T>G
NM_001288722.2:c.909+30T>G	NP_001275651.1:n.909+30T>G
NM_001288723.2:c.909+30T>G	NP_001275652.1:n.909+30T>G
NR_109991.2:n.938+30T>G