Canonical Allele Identifier: CA192430266

Gene: B4GALT1

Linked Data

• dbSNP Id: rs554090051
• gnomAD v2: 9-33122509-A-T
• gnomAD v3: 9-33122511-A-T
• gnomAD v4: 9-33122511-A-T
• MyVariant Identifiers: chr9:g.33122509A>T (hg19) ; chr9:g.33122509_33122513delinsTAAAT (hg19) ; chr9:g.33122511A>T (hg38) ; chr9:g.33122511_33122515delinsTAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122511A>T , CM000671.2:g.33122511A>T	GRCh38
NC_000009.11:g.33122509A>T , CM000671.1:g.33122509A>T	GRCh37
NC_000009.10:g.33112509A>T	NCBI36
NG_008919.1:g.49848T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-1905T>A MANE Select	ENSP00000369055.4:n.649-1905T>A
ENST00000379731.4:c.649-1905T>A	ENSP00000369055.4:n.649-1905T>A
ENST00000535206.5:c.648+12678T>A	ENSP00000440341.1:n.648+12678T>A
NM_001497.3:c.649-1905T>A	NP_001488.2:n.649-1905T>A
XM_005251440.3:c.649-1905T>A	XP_005251497.1:n.649-1905T>A
XM_005251440.5:c.649-1905T>A	XP_005251497.1:n.649-1905T>A
NM_001378495.1:c.610-1905T>A	NP_001365424.1:n.610-1905T>A
NM_001378496.1:c.649-1905T>A	NP_001365425.1:n.649-1905T>A
NM_001378497.1:c.648+12678T>A	NP_001365426.1:n.648+12678T>A
NM_001497.4:c.649-1905T>A MANE Select	NP_001488.2:n.649-1905T>A