Canonical Allele Identifier: CA192430350

Gene: B4GALT1

Linked Data

• dbSNP Id: rs1037057448
• gnomAD v2: 9-33122582-A-G
• gnomAD v3: 9-33122584-A-G
• gnomAD v4: 9-33122584-A-G
• MyVariant Identifiers: chr9:g.33122582A>G (hg19) ; chr9:g.33122584A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122584A>G , CM000671.2:g.33122584A>G	GRCh38
NC_000009.11:g.33122582A>G , CM000671.1:g.33122582A>G	GRCh37
NC_000009.10:g.33112582A>G	NCBI36
NG_008919.1:g.49775T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-1978T>C MANE Select	ENSP00000369055.4:n.649-1978T>C
ENST00000379731.4:c.649-1978T>C	ENSP00000369055.4:n.649-1978T>C
ENST00000535206.5:c.648+12605T>C	ENSP00000440341.1:n.648+12605T>C
NM_001497.3:c.649-1978T>C	NP_001488.2:n.649-1978T>C
XM_005251440.3:c.649-1978T>C	XP_005251497.1:n.649-1978T>C
XM_005251440.5:c.649-1978T>C	XP_005251497.1:n.649-1978T>C
NM_001378495.1:c.610-1978T>C	NP_001365424.1:n.610-1978T>C
NM_001378496.1:c.649-1978T>C	NP_001365425.1:n.649-1978T>C
NM_001378497.1:c.648+12605T>C	NP_001365426.1:n.648+12605T>C
NM_001497.4:c.649-1978T>C MANE Select	NP_001488.2:n.649-1978T>C