Canonical Allele Identifier: CA192430090

Gene: B4GALT1

Linked Data

• dbSNP Id: rs568945803
• gnomAD v2: 9-33122380-G-C
• gnomAD v3: 9-33122382-G-C
• gnomAD v4: 9-33122382-G-C
• MyVariant Identifiers: chr9:g.33122380G>C (hg19) ; chr9:g.33122382G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122382G>C , CM000671.2:g.33122382G>C	GRCh38
NC_000009.11:g.33122380G>C , CM000671.1:g.33122380G>C	GRCh37
NC_000009.10:g.33112380G>C	NCBI36
NG_008919.1:g.49977C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-1776C>G MANE Select	ENSP00000369055.4:n.649-1776C>G
ENST00000379731.4:c.649-1776C>G	ENSP00000369055.4:n.649-1776C>G
ENST00000535206.5:c.648+12807C>G	ENSP00000440341.1:n.648+12807C>G
NM_001497.3:c.649-1776C>G	NP_001488.2:n.649-1776C>G
XM_005251440.3:c.649-1776C>G	XP_005251497.1:n.649-1776C>G
XM_005251440.5:c.649-1776C>G	XP_005251497.1:n.649-1776C>G
NM_001378495.1:c.610-1776C>G	NP_001365424.1:n.610-1776C>G
NM_001378496.1:c.649-1776C>G	NP_001365425.1:n.649-1776C>G
NM_001378497.1:c.648+12807C>G	NP_001365426.1:n.648+12807C>G
NM_001497.4:c.649-1776C>G MANE Select	NP_001488.2:n.649-1776C>G