Canonical Allele Identifier: CA6049999

Gene: B3GAT3

Linked Data

• ClinVar Variation Id: 2761927
• ClinVar RCV Id: RCV003526402
• dbSNP Id: rs149098151
• ExAC: 11:62384058 G / A
• gnomAD v2: 11-62384058-G-A
• gnomAD v3: 11-62616586-G-A
• gnomAD v4: 11-62616586-G-A
• COSMIC: COSM3451039
• MyVariant Identifiers: chr11:g.62384058G>A (hg19) ; chr11:g.62616586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616586G>A , CM000673.2:g.62616586G>A	GRCh38
NC_000011.9:g.62384058G>A , CM000673.1:g.62384058G>A	GRCh37
NC_000011.8:g.62140634G>A	NCBI36
NG_009845.1:g.8846G>A
NG_031863.1:g.10590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.829C>T MANE Select	ENSP00000265471.5:p.Arg277Trp
ENST00000265471.9:c.829C>T	ENSP00000265471.5:p.Arg277Trp
ENST00000531383.5:c.829C>T	ENSP00000431359.1:p.Arg277Trp
ENST00000532585.5:c.*951C>T	ENSP00000432604.1:n.*951C>T
ENST00000534026.5:c.829C>T	ENSP00000432474.1:p.Arg277Trp
NM_001288721.1:c.808C>T	NP_001275650.1:p.Arg270Trp
NM_001288722.1:c.829C>T	NP_001275651.1:p.Arg277Trp
NM_001288723.1:c.829C>T	NP_001275652.1:p.Arg277Trp
NM_012200.3:c.829C>T	NP_036332.2:p.Arg277Trp
NR_109991.1:n.1047C>T
XM_011544936.1:c.808C>T	XP_011543238.1:p.Arg270Trp
NM_012200.4:c.829C>T MANE Select	NP_036332.2:p.Arg277Trp
NM_001288721.2:c.808C>T	NP_001275650.1:p.Arg270Trp
NM_001288722.2:c.829C>T	NP_001275651.1:p.Arg277Trp
NM_001288723.2:c.829C>T	NP_001275652.1:p.Arg277Trp
NR_109991.2:n.858C>T