Canonical Allele Identifier: CA475129619

Gene: B3GAT3

Linked Data

• MyVariant Identifiers: chr11:g.62384176C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616704C>G , CM000673.2:g.62616704C>G	GRCh38
NC_000011.9:g.62384176C>G , CM000673.1:g.62384176C>G	GRCh37
NC_000011.8:g.62140752C>G	NCBI36
NG_009845.1:g.8964C>G
NG_031863.1:g.10472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.711G>C MANE Select	ENSP00000265471.5:p.Val237=
ENST00000265471.9:c.711G>C	ENSP00000265471.5:p.Val237=
ENST00000531383.5:c.711G>C	ENSP00000431359.1:p.Val237=
ENST00000532585.5:c.*833G>C	ENSP00000432604.1:n.*833G>C
ENST00000533303.1:n.561G>C
ENST00000534026.5:c.711G>C	ENSP00000432474.1:p.Val237=
NM_001288721.1:c.690G>C	NP_001275650.1:p.Val230=
NM_001288722.1:c.711G>C	NP_001275651.1:p.Val237=
NM_001288723.1:c.711G>C	NP_001275652.1:p.Val237=
NM_012200.3:c.711G>C	NP_036332.2:p.Val237=
NR_109991.1:n.929G>C
XM_011544936.1:c.690G>C	XP_011543238.1:p.Val230=
NM_012200.4:c.711G>C MANE Select	NP_036332.2:p.Val237=
NM_001288721.2:c.690G>C	NP_001275650.1:p.Val230=
NM_001288722.2:c.711G>C	NP_001275651.1:p.Val237=
NM_001288723.2:c.711G>C	NP_001275652.1:p.Val237=
NR_109991.2:n.740G>C