Canonical Allele Identifier: CA599797065

Gene: B3GAT3

Linked Data

• dbSNP Id: rs1228980218
• gnomAD v2: 11-62383915-G-A
• gnomAD v3: 11-62616443-G-A
• gnomAD v4: 11-62616443-G-A
• MyVariant Identifiers: chr11:g.62383915G>A (hg19) ; chr11:g.62616443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616443G>A , CM000673.2:g.62616443G>A	GRCh38
NC_000011.9:g.62383915G>A , CM000673.1:g.62383915G>A	GRCh37
NC_000011.8:g.62140491G>A	NCBI36
NG_009845.1:g.8703G>A
NG_031863.1:g.10733C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.909+63C>T MANE Select	ENSP00000265471.5:n.909+63C>T
ENST00000265471.9:c.909+63C>T	ENSP00000265471.5:n.909+63C>T
ENST00000531383.5:c.909+63C>T	ENSP00000431359.1:n.909+63C>T
ENST00000532585.5:c.*1031+63C>T	ENSP00000432604.1:n.*1031+63C>T
ENST00000534026.5:c.909+63C>T	ENSP00000432474.1:n.909+63C>T
NM_001288721.1:c.888+63C>T	NP_001275650.1:n.888+63C>T
NM_001288722.1:c.909+63C>T	NP_001275651.1:n.909+63C>T
NM_001288723.1:c.909+63C>T	NP_001275652.1:n.909+63C>T
NM_012200.3:c.909+63C>T	NP_036332.2:n.909+63C>T
NR_109991.1:n.1127+63C>T
XM_011544936.1:c.888+63C>T	XP_011543238.1:n.888+63C>T
NM_012200.4:c.909+63C>T MANE Select	NP_036332.2:n.909+63C>T
NM_001288721.2:c.888+63C>T	NP_001275650.1:n.888+63C>T
NM_001288722.2:c.909+63C>T	NP_001275651.1:n.909+63C>T
NM_001288723.2:c.909+63C>T	NP_001275652.1:n.909+63C>T
NR_109991.2:n.938+63C>T