Canonical Allele Identifier: CA1123031469

Gene: B4GALT1

Linked Data

• dbSNP Id: rs1840038207
• gnomAD v3: 9-33122645-T-A
• gnomAD v4: 9-33122645-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122645T>A , CM000671.2:g.33122645T>A	GRCh38
NC_000009.11:g.33122643T>A , CM000671.1:g.33122643T>A	GRCh37
NC_000009.10:g.33112643T>A	NCBI36
NG_008919.1:g.49714A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-2039A>T MANE Select	ENSP00000369055.4:n.649-2039A>T
ENST00000379731.4:c.649-2039A>T	ENSP00000369055.4:n.649-2039A>T
ENST00000535206.5:c.648+12544A>T	ENSP00000440341.1:n.648+12544A>T
NM_001497.3:c.649-2039A>T	NP_001488.2:n.649-2039A>T
XM_005251440.3:c.649-2039A>T	XP_005251497.1:n.649-2039A>T
XM_005251440.5:c.649-2039A>T	XP_005251497.1:n.649-2039A>T
NM_001378495.1:c.610-2039A>T	NP_001365424.1:n.610-2039A>T
NM_001378496.1:c.649-2039A>T	NP_001365425.1:n.649-2039A>T
NM_001378497.1:c.648+12544A>T	NP_001365426.1:n.648+12544A>T
NM_001497.4:c.649-2039A>T MANE Select	NP_001488.2:n.649-2039A>T