Canonical Allele Identifier: CA475129526

Gene: B3GAT3

Linked Data

• ClinVar Variation Id: 2722487
• ClinVar RCV Id: RCV003526834
• dbSNP Id: rs1249271146
• gnomAD v2: 11-62384068-G-A
• gnomAD v3: 11-62616596-G-A
• gnomAD v4: 11-62616596-G-A
• MyVariant Identifiers: chr11:g.62384068G>A (hg19) ; chr11:g.62616596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616596G>A , CM000673.2:g.62616596G>A	GRCh38
NC_000011.9:g.62384068G>A , CM000673.1:g.62384068G>A	GRCh37
NC_000011.8:g.62140644G>A	NCBI36
NG_009845.1:g.8856G>A
NG_031863.1:g.10580C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265471.10:c.819C>T MANE Select	ENSP00000265471.5:p.Ser273=
ENST00000265471.9:c.819C>T	ENSP00000265471.5:p.Ser273=
ENST00000531383.5:c.819C>T	ENSP00000431359.1:p.Ser273=
ENST00000532585.5:c.*941C>T	ENSP00000432604.1:n.*941C>T
ENST00000534026.5:c.819C>T	ENSP00000432474.1:p.Ser273=
NM_001288721.1:c.798C>T	NP_001275650.1:p.Ser266=
NM_001288722.1:c.819C>T	NP_001275651.1:p.Ser273=
NM_001288723.1:c.819C>T	NP_001275652.1:p.Ser273=
NM_012200.3:c.819C>T	NP_036332.2:p.Ser273=
NR_109991.1:n.1037C>T
XM_011544936.1:c.798C>T	XP_011543238.1:p.Ser266=
NM_012200.4:c.819C>T MANE Select	NP_036332.2:p.Ser273=
NM_001288721.2:c.798C>T	NP_001275650.1:p.Ser266=
NM_001288722.2:c.819C>T	NP_001275651.1:p.Ser273=
NM_001288723.2:c.819C>T	NP_001275652.1:p.Ser273=
NR_109991.2:n.848C>T