Canonical Allele Identifier: CA10575594
Gene: B4GALNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 60526
dbSNP Id: rs879255241

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57631225G>A , CM000674.2:g.57631225G>A GRCh38
NC_000012.11:g.58025008G>A , CM000674.1:g.58025008G>A GRCh37
NC_000012.10:g.56311275G>A NCBI36
NG_033849.1:g.7015C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341156.9:c.358C>T MANE Select ENSP00000341562.4:p.Gln120Ter
ENST00000341156.8:c.358C>T ENSP00000341562.4:p.Gln120Ter
ENST00000418555.6:c.219-139C>T ENSP00000401601.2:n.219-139C>T
ENST00000449184.7:c.358C>T ENSP00000473533.1:p.Gln120Ter
ENST00000548487.5:c.*28C>T ENSP00000449534.1:n.*28C>T
ENST00000548888.5:c.358C>T ENSP00000447945.1:p.Gln120Ter
ENST00000550764.5:c.358C>T ENSP00000450303.1:p.Gln120Ter
ENST00000550943.1:n.414C>T
ENST00000551220.1:c.358C>T ENSP00000446566.1:p.Gln120Ter
ENST00000551925.1:n.906C>T
ENST00000552219.5:c.248C>T ENSP00000448340.1:p.Ala83Val
ENST00000552350.5:c.358C>T ENSP00000448500.1:p.Gln120Ter
ENST00000552798.5:c.358C>T ENSP00000447076.1:p.Gln120Ter
ENST00000553142.5:n.739C>T
NM_001276468.1:c.219-139C>T NP_001263397.1:n.219-139C>T
NM_001276469.1:c.358C>T NP_001263398.1:p.Gln120Ter
NM_001478.4:c.358C>T NP_001469.1:p.Gln120Ter
XM_005268773.3:c.358C>T XP_005268830.1:p.Gln120Ter
XM_011538147.1:c.358C>T XP_011536449.1:p.Gln120Ter
XM_011538148.1:c.358C>T XP_011536450.1:p.Gln120Ter
XM_005268773.5:c.358C>T XP_005268830.1:p.Gln120Ter
XM_011538147.3:c.358C>T XP_011536449.1:p.Gln120Ter
XM_017019140.2:c.358C>T XP_016874629.1:p.Gln120Ter
XM_017019141.1:c.358C>T XP_016874630.1:p.Gln120Ter
XM_017019142.1:c.358C>T XP_016874631.1:p.Gln120Ter
XM_024448928.1:c.358C>T XP_024304696.1:p.Gln120Ter
XM_024448929.1:c.-1338C>T XP_024304697.1:n.-1338C>T
XR_002957307.1:n.359C>T
NM_001478.5:c.358C>T MANE Select NP_001469.1:p.Gln120Ter
NM_001276468.2:c.219-139C>T NP_001263397.1:n.219-139C>T
NM_001276469.2:c.358C>T NP_001263398.1:p.Gln120Ter