Canonical Allele Identifier: CA347533956

Gene: ST3GAL5

Linked Data

• MyVariant Identifiers: chr2:g.86088324C>A (hg19) ; chr2:g.85861201C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85861201C>A , CM000664.2:g.85861201C>A	GRCh38
NC_000002.11:g.86088324C>A , CM000664.1:g.86088324C>A	GRCh37
NC_000002.10:g.85941835C>A	NCBI36
NG_012807.1:g.32834G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306262.10:c.*42G>T	ENSP00000306247.6:n.*42G>T
ENST00000377332.8:c.298G>T	ENSP00000366549.4:p.Val100Leu
ENST00000393805.6:c.214G>T	ENSP00000377394.1:p.Val72Leu
ENST00000393808.8:c.229G>T	ENSP00000377397.3:p.Val77Leu
ENST00000433665.6:c.*341G>T	ENSP00000408635.1:n.*341G>T
ENST00000461199.6:n.750G>T
ENST00000461892.6:n.303G>T
ENST00000473122.6:c.298G>T	ENSP00000491314.1:p.Val100Leu
ENST00000484728.6:n.309G>T
ENST00000638178.1:c.214G>T	ENSP00000492103.1:p.Val72Leu
ENST00000638227.1:c.*341G>T	ENSP00000492602.1:n.*341G>T
ENST00000638288.1:c.214G>T	ENSP00000491699.1:p.Val72Leu
ENST00000638321.1:c.195G>T
ENST00000638484.1:c.*341G>T	ENSP00000492635.1:n.*341G>T
ENST00000638523.1:c.195G>T
ENST00000638542.1:c.206+2161G>T	ENSP00000492468.1:n.206+2161G>T
ENST00000638572.2:c.298G>T MANE Select	ENSP00000491316.1:p.Val100Leu
ENST00000638581.1:n.324G>T
ENST00000638659.1:c.484G>T
ENST00000638678.1:c.296G>T
ENST00000638855.1:c.206+2161G>T	ENSP00000490979.1:n.206+2161G>T
ENST00000638885.1:c.298G>T	ENSP00000492209.1:p.Val100Leu
ENST00000638956.1:c.298G>T	ENSP00000492097.1:p.Val100Leu
ENST00000638986.1:c.214G>T	ENSP00000491853.1:p.Val72Leu
ENST00000639119.1:c.298G>T	ENSP00000492045.1:p.Val100Leu
ENST00000639184.1:c.214G>T	ENSP00000492305.1:p.Val72Leu
ENST00000639202.1:c.181G>T	ENSP00000492710.1:p.Val61Leu
ENST00000639216.1:n.320G>T
ENST00000639305.1:c.296G>T
ENST00000639311.1:c.298G>T	ENSP00000491398.1:p.Val100Leu
ENST00000639421.1:c.485G>T	ENSP00000491029.1:n.485G>T
ENST00000639432.1:c.214G>T	ENSP00000491828.1:p.Val72Leu
ENST00000639519.1:c.100G>T	ENSP00000491857.1:p.Val34Leu
ENST00000639541.1:c.298G>T	ENSP00000492280.1:p.Val100Leu
ENST00000639608.1:c.298G>T	ENSP00000492473.1:p.Val100Leu
ENST00000639690.1:c.398G>T	ENSP00000491917.1:n.398G>T
ENST00000639820.1:c.*555G>T	ENSP00000491802.1:n.*555G>T
ENST00000639945.1:c.298G>T	ENSP00000492866.1:p.Val100Leu
ENST00000639981.1:c.204G>T
ENST00000640024.1:c.298G>T	ENSP00000491238.1:p.Val100Leu
ENST00000640222.1:c.219G>T
ENST00000640295.1:c.485G>T	ENSP00000491027.1:n.485G>T
ENST00000640314.1:c.461G>T	ENSP00000491315.1:n.461G>T
ENST00000640315.1:c.274G>T	ENSP00000492089.1:p.Val92Leu
ENST00000640322.1:c.214G>T	ENSP00000491564.1:p.Val72Leu
ENST00000640378.1:c.31G>T	ENSP00000492030.1:p.Val11Leu
ENST00000640418.1:c.355G>T	ENSP00000492098.1:p.Val119Leu
ENST00000640425.1:c.281G>T
ENST00000640572.1:c.281G>T
ENST00000640594.1:c.*341G>T	ENSP00000491356.1:n.*341G>T
ENST00000640763.1:c.17G>T
ENST00000640835.1:c.180G>T
ENST00000640849.1:c.193G>T	ENSP00000491701.1:p.Val65Leu
ENST00000640903.1:c.384G>T
ENST00000640982.1:c.214G>T	ENSP00000492299.1:p.Val72Leu
ENST00000640992.1:c.214G>T	ENSP00000492753.1:p.Val72Leu
ENST00000306262.9:c.298G>T	ENSP00000306247.5:p.Val100Leu
ENST00000377332.7:c.298G>T	ENSP00000366549.3:p.Val100Leu
ENST00000393805.5:c.214G>T	ENSP00000377394.1:p.Val72Leu
ENST00000393808.7:c.229G>T	ENSP00000377397.3:p.Val77Leu
ENST00000433665.5:c.*341G>T	ENSP00000408635.1:n.*341G>T
ENST00000455892.1:c.214G>T	ENSP00000401375.1:p.Val72Leu
ENST00000461199.5:n.303G>T
ENST00000461892.5:n.301G>T
ENST00000473122.5:n.270G>T
ENST00000484728.5:n.304G>T
NM_001042437.1:c.229G>T	NP_001035902.1:p.Val77Leu
NM_003896.3:c.298G>T	NP_003887.3:p.Val100Leu
XM_005264630.3:c.298G>T	XP_005264687.1:p.Val100Leu
XM_011533143.1:c.-264G>T	XP_011531445.1:n.-264G>T
XR_939734.1:n.383G>T
XR_939735.1:n.383G>T
XR_939736.1:n.383G>T
NM_001354223.1:c.-264G>T	NP_001341152.1:n.-264G>T
NM_001354224.1:c.-327G>T	NP_001341153.1:n.-327G>T
NM_001354226.1:c.-264G>T	NP_001341155.1:n.-264G>T
NM_001354227.1:c.214G>T	NP_001341156.1:p.Val72Leu
NM_001354229.1:c.214G>T	NP_001341158.1:p.Val72Leu
NM_001354233.1:c.-704G>T	NP_001341162.1:n.-704G>T
NM_001354234.1:c.-668G>T	NP_001341163.1:n.-668G>T
NM_001354238.1:c.214G>T	NP_001341167.1:p.Val72Leu
NM_001363847.1:c.298G>T	NP_001350776.1:p.Val100Leu
XM_017005202.2:c.214G>T	XP_016860691.1:p.Val72Leu
XM_017005203.2:c.-767G>T	XP_016860692.1:n.-767G>T
XM_017005204.2:c.-767G>T	XP_016860693.1:n.-767G>T
XM_017005205.2:c.-759G>T	XP_016860694.1:n.-759G>T
XM_017005206.2:c.-668G>T	XP_016860695.1:n.-668G>T
XM_017005208.2:c.-668G>T	XP_016860697.1:n.-668G>T
XM_017005209.1:c.-319G>T	XP_016860698.1:n.-319G>T
XM_017005212.2:c.-228G>T	XP_016860701.1:n.-228G>T
XM_017005214.2:c.-264G>T	XP_016860703.1:n.-264G>T
XR_001739019.1:n.383G>T
XR_001739020.1:n.383G>T
XR_001739021.1:n.383G>T
NM_003896.4:c.298G>T MANE Select	NP_003887.3:p.Val100Leu
NM_001042437.2:c.229G>T	NP_001035902.1:p.Val77Leu
NM_001354223.2:c.-264G>T	NP_001341152.1:n.-264G>T
NM_001354224.2:c.-327G>T	NP_001341153.1:n.-327G>T
NM_001354226.2:c.-264G>T	NP_001341155.1:n.-264G>T
NM_001354227.2:c.214G>T	NP_001341156.1:p.Val72Leu
NM_001354229.2:c.214G>T	NP_001341158.1:p.Val72Leu
NM_001354233.2:c.-704G>T	NP_001341162.1:n.-704G>T