Canonical Allele Identifier: CA259833

Gene: B3GAT3

Linked Data

• ClinVar Variation Id: 30573
• ClinVar RCV Id: RCV000023536 ; RCV000211049 ; RCV000724894
• dbSNP Id: rs387906937
• ExAC: 11:62384057 C / T
• gnomAD v2: 11-62384057-C-T
• gnomAD v4: 11-62616585-C-T
• MyVariant Identifiers: chr11:g.62384057C>T (hg19) ; chr11:g.62616585C>T (hg38)
• PubMed: PMID:21763480 ; PMID:23891399 ; PMID:24668659

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616585C>T , CM000673.2:g.62616585C>T	GRCh38
NC_000011.9:g.62384057C>T , CM000673.1:g.62384057C>T	GRCh37
NC_000011.8:g.62140633C>T	NCBI36
NG_009845.1:g.8845C>T
NG_031863.1:g.10591G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265471.10:c.830G>A MANE Select	ENSP00000265471.5:p.Arg277Gln
ENST00000265471.9:c.830G>A	ENSP00000265471.5:p.Arg277Gln
ENST00000531383.5:c.830G>A	ENSP00000431359.1:p.Arg277Gln
ENST00000532585.5:c.*952G>A	ENSP00000432604.1:n.*952G>A
ENST00000534026.5:c.830G>A	ENSP00000432474.1:p.Arg277Gln
NM_001288721.1:c.809G>A	NP_001275650.1:p.Arg270Gln
NM_001288722.1:c.830G>A	NP_001275651.1:p.Arg277Gln
NM_001288723.1:c.830G>A	NP_001275652.1:p.Arg277Gln
NM_012200.3:c.830G>A	NP_036332.2:p.Arg277Gln
NR_109991.1:n.1048G>A
XM_011544936.1:c.809G>A	XP_011543238.1:p.Arg270Gln
NM_012200.4:c.830G>A MANE Select	NP_036332.2:p.Arg277Gln
NM_001288721.2:c.809G>A	NP_001275650.1:p.Arg270Gln
NM_001288722.2:c.830G>A	NP_001275651.1:p.Arg277Gln
NM_001288723.2:c.830G>A	NP_001275652.1:p.Arg277Gln
NR_109991.2:n.859G>A