Canonical Allele Identifier: CA863337988

Gene: B4GALT1

Linked Data

• dbSNP Id: rs1006804627
• gnomAD v3: 9-33122621-G-T
• gnomAD v4: 9-33122621-G-T
• MyVariant Identifiers: chr9:g.33122619G>T (hg19) ; chr9:g.33122621G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122621G>T , CM000671.2:g.33122621G>T	GRCh38
NC_000009.11:g.33122619G>T , CM000671.1:g.33122619G>T	GRCh37
NC_000009.10:g.33112619G>T	NCBI36
NG_008919.1:g.49738C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-2015C>A MANE Select	ENSP00000369055.4:n.649-2015C>A
ENST00000379731.4:c.649-2015C>A	ENSP00000369055.4:n.649-2015C>A
ENST00000535206.5:c.648+12568C>A	ENSP00000440341.1:n.648+12568C>A
NM_001497.3:c.649-2015C>A	NP_001488.2:n.649-2015C>A
XM_005251440.3:c.649-2015C>A	XP_005251497.1:n.649-2015C>A
XM_005251440.5:c.649-2015C>A	XP_005251497.1:n.649-2015C>A
NM_001378495.1:c.610-2015C>A	NP_001365424.1:n.610-2015C>A
NM_001378496.1:c.649-2015C>A	NP_001365425.1:n.649-2015C>A
NM_001378497.1:c.648+12568C>A	NP_001365426.1:n.648+12568C>A
NM_001497.4:c.649-2015C>A MANE Select	NP_001488.2:n.649-2015C>A