Canonical Allele Identifier: CA863337897
Gene: B4GALT1 HGNC NCBI

Linked Data

dbSNP Id: rs1302351789
gnomAD v3: 9-33122443-G-T
gnomAD v4: 9-33122443-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33122443G>T , CM000671.2:g.33122443G>T GRCh38
NC_000009.11:g.33122441G>T , CM000671.1:g.33122441G>T GRCh37
NC_000009.10:g.33112441G>T NCBI36
NG_008919.1:g.49916C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379731.5:c.649-1837C>A MANE Select ENSP00000369055.4:n.649-1837C>A
ENST00000379731.4:c.649-1837C>A ENSP00000369055.4:n.649-1837C>A
ENST00000535206.5:c.648+12746C>A ENSP00000440341.1:n.648+12746C>A
NM_001497.3:c.649-1837C>A NP_001488.2:n.649-1837C>A
XM_005251440.3:c.649-1837C>A XP_005251497.1:n.649-1837C>A
XM_005251440.5:c.649-1837C>A XP_005251497.1:n.649-1837C>A
NM_001378495.1:c.610-1837C>A NP_001365424.1:n.610-1837C>A
NM_001378496.1:c.649-1837C>A NP_001365425.1:n.649-1837C>A
NM_001378497.1:c.648+12746C>A NP_001365426.1:n.648+12746C>A
NM_001497.4:c.649-1837C>A MANE Select NP_001488.2:n.649-1837C>A