Canonical Allele Identifier: CA372258016

Gene: ST3GAL1

Linked Data

• dbSNP Id: rs1213961931
• gnomAD v2: 8-134474152-A-G
• gnomAD v3: 8-133461909-A-G
• gnomAD v4: 8-133461909-A-G
• MyVariant Identifiers: chr8:g.134474152A>G (hg19) ; chr8:g.133461909A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133461909A>G , CM000670.2:g.133461909A>G	GRCh38
NC_000008.10:g.134474152A>G , CM000670.1:g.134474152A>G	GRCh37
NC_000008.9:g.134543334A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000522652.6:c.815T>C MANE Select	ENSP00000430515.1:p.Leu272Pro
ENST00000648219.1:c.815T>C	ENSP00000497381.1:p.Leu272Pro
ENST00000399640.3:c.815T>C	ENSP00000414073.1:p.Leu272Pro
ENST00000521180.5:c.815T>C	ENSP00000428540.1:p.Leu272Pro
ENST00000522652.5:c.815T>C	ENSP00000430515.1:p.Leu272Pro
NM_003033.3:c.815T>C	NP_003024.1:p.Leu272Pro
NM_173344.2:c.815T>C	NP_775479.1:p.Leu272Pro
XM_005251023.1:c.815T>C	XP_005251080.1:p.Leu272Pro
XM_005251024.3:c.815T>C	XP_005251081.1:p.Leu272Pro
XM_005251025.3:c.815T>C	XP_005251082.1:p.Leu272Pro
XM_006716617.1:c.815T>C	XP_006716680.1:p.Leu272Pro
XM_011517225.1:c.815T>C	XP_011515527.1:p.Leu272Pro
XM_011517226.1:c.815T>C	XP_011515528.1:p.Leu272Pro
XM_005251025.5:c.815T>C	XP_005251082.1:p.Leu272Pro
XM_006716617.2:c.815T>C	XP_006716680.1:p.Leu272Pro
XM_011517225.2:c.815T>C	XP_011515527.1:p.Leu272Pro
XM_017013736.2:c.815T>C	XP_016869225.1:p.Leu272Pro
XM_024447233.1:c.815T>C	XP_024303001.1:p.Leu272Pro
NM_173344.3:c.815T>C MANE Select	NP_775479.1:p.Leu272Pro
NM_003033.4:c.815T>C	NP_003024.1:p.Leu272Pro