Canonical Allele Identifier: CA347531938

Gene: ST3GAL5

Linked Data

• MyVariant Identifiers: chr2:g.86075063A>T (hg19) ; chr2:g.85847940A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85847940A>T , CM000664.2:g.85847940A>T	GRCh38
NC_000002.11:g.86075063A>T , CM000664.1:g.86075063A>T	GRCh37
NC_000002.10:g.85928574A>T	NCBI36
NG_012807.1:g.46095T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306262.10:c.*327T>A	ENSP00000306247.6:n.*327T>A
ENST00000377332.8:c.463T>A	ENSP00000366549.4:p.Cys155Ser
ENST00000393805.6:c.499T>A	ENSP00000377394.1:p.Cys167Ser
ENST00000393808.8:c.514T>A	ENSP00000377397.3:p.Cys172Ser
ENST00000638178.1:c.499T>A	ENSP00000492103.1:p.Cys167Ser
ENST00000638227.1:c.*626T>A	ENSP00000492602.1:n.*626T>A
ENST00000638288.1:c.*747T>A	ENSP00000491699.1:n.*747T>A
ENST00000638321.1:c.657T>A
ENST00000638484.1:c.*803T>A	ENSP00000492635.1:n.*803T>A
ENST00000638523.1:c.1238T>A
ENST00000638542.1:c.*21T>A	ENSP00000492468.1:n.*21T>A
ENST00000638572.2:c.583T>A MANE Select	ENSP00000491316.1:p.Cys195Ser
ENST00000638581.1:n.609T>A
ENST00000638659.1:c.649T>A
ENST00000638678.1:c.581T>A
ENST00000638855.1:c.*21T>A	ENSP00000490979.1:n.*21T>A
ENST00000638885.1:c.*421T>A	ENSP00000492209.1:n.*421T>A
ENST00000638956.1:c.*855T>A	ENSP00000492097.1:n.*855T>A
ENST00000638986.1:c.499T>A	ENSP00000491853.1:p.Cys167Ser
ENST00000639074.1:n.2995T>A
ENST00000639119.1:c.583T>A	ENSP00000492045.1:p.Cys195Ser
ENST00000639184.1:c.*747T>A	ENSP00000492305.1:n.*747T>A
ENST00000639202.1:c.202-1377T>A	ENSP00000492710.1:n.202-1377T>A
ENST00000639216.1:n.605T>A
ENST00000639305.1:c.581T>A
ENST00000639311.1:c.*373T>A	ENSP00000491398.1:n.*373T>A
ENST00000639421.1:c.1351T>A	ENSP00000491029.1:n.1351T>A
ENST00000639432.1:c.499T>A	ENSP00000491828.1:p.Cys167Ser
ENST00000639541.1:c.*939T>A	ENSP00000492280.1:n.*939T>A
ENST00000639608.1:c.*421T>A	ENSP00000492473.1:n.*421T>A
ENST00000639743.1:n.4294T>A
ENST00000639820.1:c.*1017T>A	ENSP00000491802.1:n.*1017T>A
ENST00000639867.1:n.2990T>A
ENST00000639945.1:c.*499T>A	ENSP00000492866.1:n.*499T>A
ENST00000639981.1:c.1070T>A
ENST00000640024.1:c.*747T>A	ENSP00000491238.1:n.*747T>A
ENST00000640222.1:c.736T>A
ENST00000640295.1:c.947T>A	ENSP00000491027.1:n.947T>A
ENST00000640314.1:c.626T>A	ENSP00000491315.1:n.626T>A
ENST00000640315.1:c.559T>A	ENSP00000492089.1:p.Cys187Ser
ENST00000640322.1:c.499T>A	ENSP00000491564.1:p.Cys167Ser
ENST00000640378.1:c.897T>A	ENSP00000492030.1:n.897T>A
ENST00000640418.1:c.640T>A	ENSP00000492098.1:p.Cys214Ser
ENST00000640425.1:c.566T>A
ENST00000640453.1:n.2259T>A
ENST00000640572.1:c.435T>A
ENST00000640594.1:c.*626T>A	ENSP00000491356.1:n.*626T>A
ENST00000640712.1:n.2931T>A
ENST00000640763.1:c.2932T>A
ENST00000640798.1:n.2198T>A
ENST00000640835.1:c.642T>A
ENST00000640849.1:c.619T>A	ENSP00000491701.1:n.619T>A
ENST00000640903.1:c.669T>A
ENST00000640982.1:c.499T>A	ENSP00000492299.1:p.Cys167Ser
ENST00000640992.1:c.499T>A	ENSP00000492753.1:p.Cys167Ser
ENST00000306262.9:c.*421T>A	ENSP00000306247.5:n.*421T>A
ENST00000377332.7:c.583T>A	ENSP00000366549.3:p.Cys195Ser
ENST00000393805.5:c.499T>A	ENSP00000377394.1:p.Cys167Ser
ENST00000393808.7:c.514T>A	ENSP00000377397.3:p.Cys172Ser
ENST00000461206.1:n.1637T>A
NM_001042437.1:c.514T>A	NP_001035902.1:p.Cys172Ser
NM_003896.3:c.583T>A	NP_003887.3:p.Cys195Ser
XM_005264630.3:c.583T>A	XP_005264687.1:p.Cys195Ser
XM_011533143.1:c.199T>A	XP_011531445.1:p.Cys67Ser
XR_939734.1:n.668T>A
NM_001354223.1:c.199T>A	NP_001341152.1:p.Cys67Ser
NM_001354224.1:c.199T>A	NP_001341153.1:p.Cys67Ser
NM_001354226.1:c.199T>A	NP_001341155.1:p.Cys67Ser
NM_001354227.1:c.499T>A	NP_001341156.1:p.Cys167Ser
NM_001354229.1:c.499T>A	NP_001341158.1:p.Cys167Ser
NM_001354233.1:c.199T>A	NP_001341162.1:p.Cys67Ser
NM_001354234.1:c.199T>A	NP_001341163.1:p.Cys67Ser
NM_001354238.1:c.499T>A	NP_001341167.1:p.Cys167Ser
NM_001354247.1:c.-322T>A	NP_001341176.1:n.-322T>A
NM_001354248.1:c.199T>A	NP_001341177.1:p.Cys67Ser
NM_001363847.1:c.583T>A	NP_001350776.1:p.Cys195Ser
XM_017005202.2:c.499T>A	XP_016860691.1:p.Cys167Ser
XM_017005203.2:c.199T>A	XP_016860692.1:p.Cys67Ser
XM_017005204.2:c.199T>A	XP_016860693.1:p.Cys67Ser
XM_017005205.2:c.199T>A	XP_016860694.1:p.Cys67Ser
XM_017005206.2:c.199T>A	XP_016860695.1:p.Cys67Ser
XM_017005208.2:c.199T>A	XP_016860697.1:p.Cys67Ser
XM_017005209.1:c.199T>A	XP_016860698.1:p.Cys67Ser
XM_017005212.2:c.199T>A	XP_016860701.1:p.Cys67Ser
XM_017005213.2:c.199T>A	XP_016860702.1:p.Cys67Ser
XM_017005214.2:c.199T>A	XP_016860703.1:p.Cys67Ser
XR_001739019.1:n.668T>A
XR_001739020.1:n.1340T>A
XR_001739021.1:n.1517T>A
NM_003896.4:c.583T>A MANE Select	NP_003887.3:p.Cys195Ser
NM_001042437.2:c.514T>A	NP_001035902.1:p.Cys172Ser
NM_001354223.2:c.199T>A	NP_001341152.1:p.Cys67Ser
NM_001354224.2:c.199T>A	NP_001341153.1:p.Cys67Ser
NM_001354226.2:c.199T>A	NP_001341155.1:p.Cys67Ser
NM_001354227.2:c.499T>A	NP_001341156.1:p.Cys167Ser
NM_001354229.2:c.499T>A	NP_001341158.1:p.Cys167Ser
NM_001354233.2:c.199T>A	NP_001341162.1:p.Cys67Ser