Canonical Allele Identifier: CA12985156

Gene: B4GALT1

Linked Data

• dbSNP Id: rs3780486
• gnomAD v2: 9-33139453-C-T
• gnomAD v3: 9-33139455-C-T
• gnomAD v4: 9-33139455-C-T
• MyVariant Identifiers: chr9:g.33139453C>T (hg19) ; chr9:g.33139455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33139455C>T , CM000671.2:g.33139455C>T	GRCh38
NC_000009.11:g.33139453C>T , CM000671.1:g.33139453C>T	GRCh37
NC_000009.10:g.33129453C>T	NCBI36
NG_008919.1:g.32904G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379731.5:c.413-4031G>A MANE Select	ENSP00000369055.4:n.413-4031G>A
ENST00000379731.4:c.413-4031G>A	ENSP00000369055.4:n.413-4031G>A
ENST00000535206.5:c.413-4031G>A	ENSP00000440341.1:n.413-4031G>A
NM_001497.3:c.413-4031G>A	NP_001488.2:n.413-4031G>A
XM_005251440.3:c.413-4031G>A	XP_005251497.1:n.413-4031G>A
XM_005251440.5:c.413-4031G>A	XP_005251497.1:n.413-4031G>A
NM_001378495.1:c.374-4031G>A	NP_001365424.1:n.374-4031G>A
NM_001378496.1:c.413-4031G>A	NP_001365425.1:n.413-4031G>A
NM_001378497.1:c.413-4031G>A	NP_001365426.1:n.413-4031G>A
NM_001497.4:c.413-4031G>A MANE Select	NP_001488.2:n.413-4031G>A