Canonical Allele Identifier: CA347530843

Gene: ST3GAL5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85846394C>T , CM000664.2:g.85846394C>T	GRCh38
NC_000002.11:g.86073517C>T , CM000664.1:g.86073517C>T	GRCh37
NC_000002.10:g.85927028C>T	NCBI36
NG_012807.1:g.47641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377332.8:c.712G>A	ENSP00000366549.4:p.Val238Ile
ENST00000393805.6:c.748G>A	ENSP00000377394.1:p.Val250Ile
ENST00000393808.8:c.763G>A	ENSP00000377397.3:p.Val255Ile
ENST00000638178.1:c.748G>A	ENSP00000492103.1:p.Val250Ile
ENST00000638227.1:c.*875G>A	ENSP00000492602.1:n.*875G>A
ENST00000638288.1:c.*996G>A	ENSP00000491699.1:n.*996G>A
ENST00000638321.1:c.767G>A
ENST00000638484.1:c.*1052G>A	ENSP00000492635.1:n.*1052G>A
ENST00000638523.1:c.1487G>A
ENST00000638542.1:c.*451G>A	ENSP00000492468.1:n.*451G>A
ENST00000638572.2:c.832G>A MANE Select	ENSP00000491316.1:p.Val278Ile
ENST00000638581.1:n.858G>A
ENST00000638659.1:c.898G>A
ENST00000638678.1:c.691G>A
ENST00000638855.1:c.*270G>A	ENSP00000490979.1:n.*270G>A
ENST00000638885.1:c.*851G>A	ENSP00000492209.1:n.*851G>A
ENST00000638956.1:c.*1104G>A	ENSP00000492097.1:n.*1104G>A
ENST00000638986.1:c.748G>A	ENSP00000491853.1:p.Val250Ile
ENST00000639074.1:n.3105G>A
ENST00000639119.1:c.832G>A	ENSP00000492045.1:p.Val278Ile
ENST00000639184.1:c.*996G>A	ENSP00000492305.1:n.*996G>A
ENST00000639202.1:c.371G>A	ENSP00000492710.1:n.371G>A
ENST00000639216.1:n.715G>A
ENST00000639305.1:c.830G>A
ENST00000639311.1:c.*622G>A	ENSP00000491398.1:n.*622G>A
ENST00000639432.1:c.748G>A	ENSP00000491828.1:p.Val250Ile
ENST00000639541.1:c.*1188G>A	ENSP00000492280.1:n.*1188G>A
ENST00000639608.1:c.*670G>A	ENSP00000492473.1:n.*670G>A
ENST00000639743.1:n.4543G>A
ENST00000639820.1:c.*1266G>A	ENSP00000491802.1:n.*1266G>A
ENST00000639867.1:n.3239G>A
ENST00000639945.1:c.*748G>A	ENSP00000492866.1:n.*748G>A
ENST00000639981.1:c.1149+1467G>A
ENST00000640024.1:c.*996G>A	ENSP00000491238.1:n.*996G>A
ENST00000640222.1:c.985G>A
ENST00000640295.1:c.1196G>A	ENSP00000491027.1:n.1196G>A
ENST00000640314.1:c.875G>A	ENSP00000491315.1:n.875G>A
ENST00000640315.1:c.669G>A	ENSP00000492089.1:p.Trp223Ter
ENST00000640322.1:c.748G>A	ENSP00000491564.1:p.Val250Ile
ENST00000640336.1:n.398G>A
ENST00000640378.1:c.1146G>A	ENSP00000492030.1:n.1146G>A
ENST00000640418.1:c.889G>A	ENSP00000492098.1:p.Val297Ile
ENST00000640425.1:c.996G>A
ENST00000640453.1:n.2508G>A
ENST00000640572.1:c.865G>A
ENST00000640594.1:c.*705+1467G>A	ENSP00000491356.1:n.*705+1467G>A
ENST00000640712.1:n.3180G>A
ENST00000640763.1:c.3362G>A
ENST00000640798.1:n.2628G>A
ENST00000640835.1:c.721+1467G>A
ENST00000640849.1:c.868G>A	ENSP00000491701.1:n.868G>A
ENST00000640903.1:c.1099G>A
ENST00000640982.1:c.748G>A	ENSP00000492299.1:p.Val250Ile
ENST00000640992.1:c.748G>A	ENSP00000492753.1:p.Val250Ile
ENST00000377332.7:c.832G>A	ENSP00000366549.3:p.Val278Ile
ENST00000393805.5:c.748G>A	ENSP00000377394.1:p.Val250Ile
ENST00000393808.7:c.763G>A	ENSP00000377397.3:p.Val255Ile
ENST00000461206.1:n.2067G>A
NM_001042437.1:c.763G>A	NP_001035902.1:p.Val255Ile
NM_003896.3:c.832G>A	NP_003887.3:p.Val278Ile
XM_005264630.3:c.832G>A	XP_005264687.1:p.Val278Ile
XM_011533143.1:c.448G>A	XP_011531445.1:p.Val150Ile
NM_001354223.1:c.448G>A	NP_001341152.1:p.Val150Ile
NM_001354224.1:c.448G>A	NP_001341153.1:p.Val150Ile
NM_001354226.1:c.448G>A	NP_001341155.1:p.Val150Ile
NM_001354227.1:c.748G>A	NP_001341156.1:p.Val250Ile
NM_001354229.1:c.748G>A	NP_001341158.1:p.Val250Ile
NM_001354233.1:c.448G>A	NP_001341162.1:p.Val150Ile
NM_001354234.1:c.448G>A	NP_001341163.1:p.Val150Ile
NM_001354238.1:c.748G>A	NP_001341167.1:p.Val250Ile
NM_001354247.1:c.109G>A	NP_001341176.1:p.Val37Ile
NM_001354248.1:c.448G>A	NP_001341177.1:p.Val150Ile
NM_001363847.1:c.832G>A	NP_001350776.1:p.Val278Ile
XM_017005202.2:c.748G>A	XP_016860691.1:p.Val250Ile
XM_017005203.2:c.448G>A	XP_016860692.1:p.Val150Ile
XM_017005204.2:c.448G>A	XP_016860693.1:p.Val150Ile
XM_017005205.2:c.448G>A	XP_016860694.1:p.Val150Ile
XM_017005206.2:c.448G>A	XP_016860695.1:p.Val150Ile
XM_017005208.2:c.448G>A	XP_016860697.1:p.Val150Ile
XM_017005209.1:c.448G>A	XP_016860698.1:p.Val150Ile
XM_017005212.2:c.448G>A	XP_016860701.1:p.Val150Ile
XM_017005213.2:c.448G>A	XP_016860702.1:p.Val150Ile
XM_017005214.2:c.448G>A	XP_016860703.1:p.Val150Ile
XR_001739019.1:n.1098G>A
XR_001739020.1:n.1589G>A
XR_001739021.1:n.1947G>A
NM_003896.4:c.832G>A MANE Select	NP_003887.3:p.Val278Ile
NM_001042437.2:c.763G>A	NP_001035902.1:p.Val255Ile
NM_001354223.2:c.448G>A	NP_001341152.1:p.Val150Ile
NM_001354224.2:c.448G>A	NP_001341153.1:p.Val150Ile
NM_001354226.2:c.448G>A	NP_001341155.1:p.Val150Ile
NM_001354227.2:c.748G>A	NP_001341156.1:p.Val250Ile
NM_001354229.2:c.748G>A	NP_001341158.1:p.Val250Ile
NM_001354233.2:c.448G>A	NP_001341162.1:p.Val150Ile