Canonical Allele Identifier: CA380975309

Gene: B3GAT3

Linked Data

• gnomAD v4: 11-62616591-G-A
• MyVariant Identifiers: chr11:g.62384063G>A (hg19) ; chr11:g.62616591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616591G>A , CM000673.2:g.62616591G>A	GRCh38
NC_000011.9:g.62384063G>A , CM000673.1:g.62384063G>A	GRCh37
NC_000011.8:g.62140639G>A	NCBI36
NG_009845.1:g.8851G>A
NG_031863.1:g.10585C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265471.10:c.824C>T MANE Select	ENSP00000265471.5:p.Ala275Val
ENST00000265471.9:c.824C>T	ENSP00000265471.5:p.Ala275Val
ENST00000531383.5:c.824C>T	ENSP00000431359.1:p.Ala275Val
ENST00000532585.5:c.*946C>T	ENSP00000432604.1:n.*946C>T
ENST00000534026.5:c.824C>T	ENSP00000432474.1:p.Ala275Val
NM_001288721.1:c.803C>T	NP_001275650.1:p.Ala268Val
NM_001288722.1:c.824C>T	NP_001275651.1:p.Ala275Val
NM_001288723.1:c.824C>T	NP_001275652.1:p.Ala275Val
NM_012200.3:c.824C>T	NP_036332.2:p.Ala275Val
NR_109991.1:n.1042C>T
XM_011544936.1:c.803C>T	XP_011543238.1:p.Ala268Val
NM_012200.4:c.824C>T MANE Select	NP_036332.2:p.Ala275Val
NM_001288721.2:c.803C>T	NP_001275650.1:p.Ala268Val
NM_001288722.2:c.824C>T	NP_001275651.1:p.Ala275Val
NM_001288723.2:c.824C>T	NP_001275652.1:p.Ala275Val
NR_109991.2:n.853C>T