Canonical Allele Identifier: CA475129516
Gene: B3GAT3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.62384062A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62616590A>G , CM000673.2:g.62616590A>G GRCh38
NC_000011.9:g.62384062A>G , CM000673.1:g.62384062A>G GRCh37
NC_000011.8:g.62140638A>G NCBI36
NG_009845.1:g.8850A>G
NG_031863.1:g.10586T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265471.10:c.825T>C MANE Select ENSP00000265471.5:p.Ala275=
ENST00000265471.9:c.825T>C ENSP00000265471.5:p.Ala275=
ENST00000531383.5:c.825T>C ENSP00000431359.1:p.Ala275=
ENST00000532585.5:c.*947T>C ENSP00000432604.1:n.*947T>C
ENST00000534026.5:c.825T>C ENSP00000432474.1:p.Ala275=
NM_001288721.1:c.804T>C NP_001275650.1:p.Ala268=
NM_001288722.1:c.825T>C NP_001275651.1:p.Ala275=
NM_001288723.1:c.825T>C NP_001275652.1:p.Ala275=
NM_012200.3:c.825T>C NP_036332.2:p.Ala275=
NR_109991.1:n.1043T>C
XM_011544936.1:c.804T>C XP_011543238.1:p.Ala268=
NM_012200.4:c.825T>C MANE Select NP_036332.2:p.Ala275=
NM_001288721.2:c.804T>C NP_001275650.1:p.Ala268=
NM_001288722.2:c.825T>C NP_001275651.1:p.Ala275=
NM_001288723.2:c.825T>C NP_001275652.1:p.Ala275=
NR_109991.2:n.854T>C