Canonical Allele Identifier: CA918442260

Gene: B4GALT1

Linked Data

• dbSNP Id: rs1564038926
• gnomAD v3: 9-33122354-C-CA
• gnomAD v4: 9-33122354-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122360dup , CM000671.2:g.33122360dup	GRCh38
NC_000009.11:g.33122358dup , CM000671.1:g.33122358dup	GRCh37
NC_000009.10:g.33112358dup	NCBI36
NG_008919.1:g.50004dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-1749dup MANE Select	ENSP00000369055.4:n.649-1749dup
ENST00000379731.4:c.649-1749dup	ENSP00000369055.4:n.649-1749dup
ENST00000535206.5:c.648+12834dup	ENSP00000440341.1:n.648+12834dup
NM_001497.3:c.649-1749dup	NP_001488.2:n.649-1749dup
XM_005251440.3:c.649-1749dup	XP_005251497.1:n.649-1749dup
XM_005251440.5:c.649-1749dup	XP_005251497.1:n.649-1749dup
NM_001378495.1:c.610-1749dup	NP_001365424.1:n.610-1749dup
NM_001378496.1:c.649-1749dup	NP_001365425.1:n.649-1749dup
NM_001378497.1:c.648+12834dup	NP_001365426.1:n.648+12834dup
NM_001497.4:c.649-1749dup MANE Select	NP_001488.2:n.649-1749dup