Canonical Allele Identifier: CA599797071

Gene: B3GAT3

Linked Data

• dbSNP Id: rs1276720664
• gnomAD v2: 11-62383969-T-G
• gnomAD v4: 11-62616497-T-G
• MyVariant Identifiers: chr11:g.62383969T>G (hg19) ; chr11:g.62616497T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616497T>G , CM000673.2:g.62616497T>G	GRCh38
NC_000011.9:g.62383969T>G , CM000673.1:g.62383969T>G	GRCh37
NC_000011.8:g.62140545T>G	NCBI36
NG_009845.1:g.8757T>G
NG_031863.1:g.10679A>C

Transcript Alleles

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