Canonical Allele Identifier: CA118380
Gene: B3GALNT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6636
ClinVar RCV Id: RCV000007015
dbSNP Id: rs28937582

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.161085958T>G , CM000665.2:g.161085958T>G GRCh38
NC_000003.11:g.160803746T>G , CM000665.1:g.160803746T>G GRCh37
NC_000003.10:g.162286440T>G NCBI36
NG_007854.1:g.24415A>C

Transcript Alleles

HGVS Amino-acid change
NM_001038628.1:c.797A>C VV NP_001033717.1:p.Glu266Ala
NM_003781.3:c.797A>C VV NP_003772.1:p.Glu266Ala
NM_033167.2:c.797A>C VV NP_149357.1:p.Glu266Ala
NM_033168.2:c.797A>C VV NP_149358.1:p.Glu266Ala
NM_033169.2:c.797A>C VV NP_149359.1:p.Glu266Ala
XM_005247859.3:c.797A>C XP_005247916.1:p.Glu266Ala
XM_005247861.2:c.797A>C XP_005247918.1:p.Glu266Ala
XM_005247862.2:c.797A>C XP_005247919.1:p.Glu266Ala
XM_005247864.2:c.797A>C XP_005247921.1:p.Glu266Ala
XM_006713803.2:c.797A>C XP_006713866.1:p.Glu266Ala
XM_006713804.2:c.797A>C XP_006713867.1:p.Glu266Ala
XM_006713805.2:c.797A>C XP_006713868.1:p.Glu266Ala
XM_011513261.1:c.797A>C XP_011511563.1:p.Glu266Ala
NM_001349130.1:c.797A>C VV NP_001336059.1:p.Glu266Ala
NM_001349131.1:c.797A>C VV NP_001336060.1:p.Glu266Ala
NM_001349132.1:c.797A>C VV NP_001336061.1:p.Glu266Ala
NM_001349133.1:c.797A>C VV NP_001336062.1:p.Glu266Ala
NM_001349134.1:c.797A>C VV NP_001336063.1:p.Glu266Ala
NM_001349135.1:c.797A>C VV NP_001336064.1:p.Glu266Ala
NM_001349136.1:c.797A>C VV NP_001336065.1:p.Glu266Ala
NM_001349137.1:c.797A>C VV NP_001336066.1:p.Glu266Ala
NM_001349138.1:c.797A>C VV NP_001336067.1:p.Glu266Ala
NM_001349139.1:c.797A>C VV NP_001336068.1:p.Glu266Ala
NM_001349140.1:c.797A>C VV NP_001336069.1:p.Glu266Ala
NM_001349141.1:c.797A>C VV NP_001336070.1:p.Glu266Ala
NM_001349142.1:c.797A>C VV NP_001336071.1:p.Glu266Ala
NM_001349143.1:c.797A>C VV NP_001336072.1:p.Glu266Ala
NM_001349144.1:c.797A>C VV NP_001336073.1:p.Glu266Ala
NM_001349145.1:c.797A>C VV NP_001336074.1:p.Glu266Ala
NM_001349146.1:c.797A>C VV NP_001336075.1:p.Glu266Ala
NM_001349147.1:c.797A>C VV NP_001336076.1:p.Glu266Ala
NM_001349148.1:c.797A>C VV NP_001336077.1:p.Glu266Ala
NM_001349149.1:c.797A>C VV NP_001336078.1:p.Glu266Ala
NM_001349150.1:c.797A>C VV NP_001336079.1:p.Glu266Ala
NM_001349151.1:c.797A>C VV NP_001336080.1:p.Glu266Ala
NM_001349152.1:c.797A>C VV NP_001336081.1:p.Glu266Ala
NM_001349153.1:c.797A>C VV NP_001336082.1:p.Glu266Ala
NM_001349154.1:c.797A>C VV NP_001336083.1:p.Glu266Ala
NM_001349155.1:c.797A>C VV NP_001336084.1:p.Glu266Ala
NM_001349156.1:c.797A>C VV NP_001336085.1:p.Glu266Ala
NM_001349157.1:c.797A>C VV NP_001336086.1:p.Glu266Ala
NM_001349158.1:c.797A>C VV NP_001336087.1:p.Glu266Ala
NM_001349159.1:c.797A>C VV NP_001336088.1:p.Glu266Ala
NM_001349160.1:c.797A>C VV NP_001336089.1:p.Glu266Ala
NM_001349161.1:c.797A>C VV NP_001336090.1:p.Glu266Ala
NM_001349162.1:c.1157A>C VV NP_001336091.1:p.Glu386Ala
NM_001349163.1:c.1157A>C VV NP_001336092.1:p.Glu386Ala
XM_005247859.5:c.797A>C XP_005247916.1:p.Glu266Ala
XM_024453808.1:c.797A>C XP_024309576.1:p.Glu266Ala
NM_003781.4:c.797A>C VV MANE Preferred NP_003772.1:p.Glu266Ala
ENST00000320474.8:c.797A>C ENSP00000323479.4:p.Glu266Ala
ENST00000392779.6:c.797A>C ENSP00000376530.2:p.Glu266Ala
ENST00000392781.6:c.797A>C ENSP00000376532.2:p.Glu266Ala
ENST00000417187.1:c.162-85A>C ENSP00000407027.1:p.=
ENST00000473285.5:c.797A>C ENSP00000418226.1:p.Glu266Ala
ENST00000488170.5:c.797A>C ENSP00000420163.1:p.Glu266Ala