Canonical Allele Identifier: CA6050001

Gene: B3GAT3

Linked Data

• ClinVar Variation Id: 1538651
• ClinVar RCV Id: RCV002176694
• dbSNP Id: rs376057557
• ExAC: 11:62384065 G / A
• gnomAD v2: 11-62384065-G-A
• gnomAD v3: 11-62616593-G-A
• gnomAD v4: 11-62616593-G-A
• MyVariant Identifiers: chr11:g.62384065G>A (hg19) ; chr11:g.62616593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616593G>A , CM000673.2:g.62616593G>A	GRCh38
NC_000011.9:g.62384065G>A , CM000673.1:g.62384065G>A	GRCh37
NC_000011.8:g.62140641G>A	NCBI36
NG_009845.1:g.8853G>A
NG_031863.1:g.10583C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265471.10:c.822C>T MANE Select	ENSP00000265471.5:p.Thr274=
ENST00000265471.9:c.822C>T	ENSP00000265471.5:p.Thr274=
ENST00000531383.5:c.822C>T	ENSP00000431359.1:p.Thr274=
ENST00000532585.5:c.*944C>T	ENSP00000432604.1:n.*944C>T
ENST00000534026.5:c.822C>T	ENSP00000432474.1:p.Thr274=
NM_001288721.1:c.801C>T	NP_001275650.1:p.Thr267=
NM_001288722.1:c.822C>T	NP_001275651.1:p.Thr274=
NM_001288723.1:c.822C>T	NP_001275652.1:p.Thr274=
NM_012200.3:c.822C>T	NP_036332.2:p.Thr274=
NR_109991.1:n.1040C>T
XM_011544936.1:c.801C>T	XP_011543238.1:p.Thr267=
NM_012200.4:c.822C>T MANE Select	NP_036332.2:p.Thr274=
NM_001288721.2:c.801C>T	NP_001275650.1:p.Thr267=
NM_001288722.2:c.822C>T	NP_001275651.1:p.Thr274=
NM_001288723.2:c.822C>T	NP_001275652.1:p.Thr274=
NR_109991.2:n.851C>T