Canonical Allele Identifier: CA1844936259

Gene: B4GALT1

Linked Data

• dbSNP Id: rs1840037426

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122596T>C , CM000671.2:g.33122596T>C	GRCh38
NC_000009.11:g.33122594T>C , CM000671.1:g.33122594T>C	GRCh37
NC_000009.10:g.33112594T>C	NCBI36
NG_008919.1:g.49763A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379731.5:c.649-1990A>G MANE Select	ENSP00000369055.4:n.649-1990A>G
ENST00000379731.4:c.649-1990A>G	ENSP00000369055.4:n.649-1990A>G
ENST00000535206.5:c.648+12593A>G	ENSP00000440341.1:n.648+12593A>G
NM_001497.3:c.649-1990A>G	NP_001488.2:n.649-1990A>G
XM_005251440.3:c.649-1990A>G	XP_005251497.1:n.649-1990A>G
XM_005251440.5:c.649-1990A>G	XP_005251497.1:n.649-1990A>G
NM_001378495.1:c.610-1990A>G	NP_001365424.1:n.610-1990A>G
NM_001378496.1:c.649-1990A>G	NP_001365425.1:n.649-1990A>G
NM_001378497.1:c.648+12593A>G	NP_001365426.1:n.648+12593A>G
NM_001497.4:c.649-1990A>G MANE Select	NP_001488.2:n.649-1990A>G