Canonical Allele Identifier: CA347502599

Gene: ST3GAL5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85840197C>T , CM000664.2:g.85840197C>T	GRCh38
NC_000002.11:g.86067320C>T , CM000664.1:g.86067320C>T	GRCh37
NC_000002.10:g.85920831C>T	NCBI36
NG_012807.1:g.53838G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003896.4:c.1204G>A MANE Select	NP_003887.3:p.Val402Ile
ENST00000638572.2:c.1204G>A MANE Select	ENSP00000491316.1:p.Val402Ile
NM_001042437.1:c.1135G>A	NP_001035902.1:p.Val379Ile
NM_001042437.2:c.1135G>A	NP_001035902.1:p.Val379Ile
NM_001354223.1:c.820G>A	NP_001341152.1:p.Val274Ile
NM_001354223.2:c.820G>A	NP_001341152.1:p.Val274Ile
NM_001354224.1:c.820G>A	NP_001341153.1:p.Val274Ile
NM_001354224.2:c.820G>A	NP_001341153.1:p.Val274Ile
NM_001354226.1:c.820G>A	NP_001341155.1:p.Val274Ile
NM_001354226.2:c.820G>A	NP_001341155.1:p.Val274Ile
NM_001354227.1:c.1120G>A	NP_001341156.1:p.Val374Ile
NM_001354227.2:c.1120G>A	NP_001341156.1:p.Val374Ile
NM_001354229.1:c.1120G>A	NP_001341158.1:p.Val374Ile
NM_001354229.2:c.1120G>A	NP_001341158.1:p.Val374Ile
NM_001354233.1:c.820G>A	NP_001341162.1:p.Val274Ile
NM_001354233.2:c.820G>A	NP_001341162.1:p.Val274Ile
NM_001354234.1:c.820G>A	NP_001341163.1:p.Val274Ile
NM_001354238.1:c.1120G>A	NP_001341167.1:p.Val374Ile
NM_001354247.1:c.481G>A	NP_001341176.1:p.Val161Ile
NM_001354248.1:c.820G>A	NP_001341177.1:p.Val274Ile
NM_001363847.1:c.1045G>A	NP_001350776.1:p.Val349Ile
NM_003896.3:c.1204G>A	NP_003887.3:p.Val402Ile
ENST00000377332.7:c.1204G>A	ENSP00000366549.3:p.Val402Ile
ENST00000377332.8:c.1084G>A	ENSP00000366549.4:p.Val362Ile
ENST00000393805.5:c.1120G>A	ENSP00000377394.1:p.Val374Ile
ENST00000393805.6:c.1120G>A	ENSP00000377394.1:p.Val374Ile
ENST00000393808.7:c.1135G>A	ENSP00000377397.3:p.Val379Ile
ENST00000393808.8:c.1135G>A	ENSP00000377397.3:p.Val379Ile
ENST00000461206.1:n.2439G>A
ENST00000638178.1:c.961G>A	ENSP00000492103.1:p.Val321Ile
ENST00000638227.1:c.*1247G>A	ENSP00000492602.1:n.*1247G>A
ENST00000638288.1:c.*1368G>A	ENSP00000491699.1:n.*1368G>A
ENST00000638321.1:c.1139G>A
ENST00000638484.1:c.*1424G>A	ENSP00000492635.1:n.*1424G>A
ENST00000638523.1:c.1859G>A
ENST00000638542.1:c.*664G>A	ENSP00000492468.1:n.*664G>A
ENST00000638581.1:n.1071G>A
ENST00000638659.1:c.1270G>A
ENST00000638678.1:c.1063G>A
ENST00000638855.1:c.*642G>A	ENSP00000490979.1:n.*642G>A
ENST00000638885.1:c.*1223G>A	ENSP00000492209.1:n.*1223G>A
ENST00000638956.1:c.*1476G>A	ENSP00000492097.1:n.*1476G>A
ENST00000638986.1:c.1120G>A	ENSP00000491853.1:p.Val374Ile
ENST00000639074.1:n.3477G>A
ENST00000639119.1:c.1045G>A	ENSP00000492045.1:p.Val349Ile
ENST00000639184.1:c.*1368G>A	ENSP00000492305.1:n.*1368G>A
ENST00000639216.1:n.1087G>A
ENST00000639305.1:c.1169G>A
ENST00000639311.1:c.*994G>A	ENSP00000491398.1:n.*994G>A
ENST00000639432.1:c.1120G>A	ENSP00000491828.1:p.Val374Ile
ENST00000639472.1:n.2054G>A
ENST00000639541.1:c.*1560G>A	ENSP00000492280.1:n.*1560G>A
ENST00000639608.1:c.*1042G>A	ENSP00000492473.1:n.*1042G>A
ENST00000639743.1:n.4915G>A
ENST00000639820.1:c.*1638G>A	ENSP00000491802.1:n.*1638G>A
ENST00000639867.1:n.3611G>A
ENST00000639945.1:c.*1120G>A	ENSP00000492866.1:n.*1120G>A
ENST00000639981.1:c.1345G>A
ENST00000640024.1:c.*1368G>A	ENSP00000491238.1:n.*1368G>A
ENST00000640222.1:c.1357G>A
ENST00000640295.1:c.1409G>A	ENSP00000491027.1:n.1409G>A
ENST00000640314.1:c.1214G>A	ENSP00000491315.1:n.1214G>A
ENST00000640315.1:c.882G>A	ENSP00000492089.1:n.882G>A
ENST00000640322.1:c.1120G>A	ENSP00000491564.1:p.Val374Ile
ENST00000640378.1:c.1359G>A	ENSP00000492030.1:n.1359G>A
ENST00000640418.1:c.1261G>A	ENSP00000492098.1:p.Val421Ile
ENST00000640425.1:c.1368G>A
ENST00000640453.1:n.2721G>A
ENST00000640572.1:c.1237G>A
ENST00000640594.1:c.*901G>A	ENSP00000491356.1:n.*901G>A
ENST00000640712.1:n.3552G>A
ENST00000640763.1:c.3575G>A
ENST00000640798.1:n.3000G>A
ENST00000640835.1:c.917G>A
ENST00000640903.1:c.1471G>A
ENST00000640982.1:c.1120G>A	ENSP00000492299.1:p.Val374Ile
ENST00000640992.1:c.1120G>A	ENSP00000492753.1:p.Val374Ile
XM_005264630.3:c.1045G>A	XP_005264687.1:p.Val349Ile
XM_011533143.1:c.820G>A	XP_011531445.1:p.Val274Ile
XM_017005202.2:c.961G>A	XP_016860691.1:p.Val321Ile
XM_017005203.2:c.820G>A	XP_016860692.1:p.Val274Ile
XM_017005204.2:c.820G>A	XP_016860693.1:p.Val274Ile
XM_017005205.2:c.820G>A	XP_016860694.1:p.Val274Ile
XM_017005206.2:c.820G>A	XP_016860695.1:p.Val274Ile
XM_017005208.2:c.820G>A	XP_016860697.1:p.Val274Ile
XM_017005209.1:c.820G>A	XP_016860698.1:p.Val274Ile
XM_017005212.2:c.820G>A	XP_016860701.1:p.Val274Ile
XM_017005213.2:c.820G>A	XP_016860702.1:p.Val274Ile
XM_017005214.2:c.661G>A	XP_016860703.1:p.Val221Ile
XR_001739019.1:n.1470G>A
XR_001739020.1:n.1961G>A
XR_001739021.1:n.2319G>A