Canonical Allele Identifier: CA248774
Gene: ALG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78104013A>G , CM000673.2:g.78104013A>G GRCh38
NC_000011.9:g.77815059A>G , CM000673.1:g.77815059A>G GRCh37
NC_000011.8:g.77492707A>G NCBI36
NG_008926.1:g.40641T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299626.10:c.1316T>C MANE Select ENSP00000299626.5:p.Ile439Thr
ENST00000524925.2:n.1394T>C
ENST00000525761.3:c.1052T>C ENSP00000431357.3:p.Ile351Thr
ENST00000525783.6:c.1052T>C ENSP00000434066.2:p.Ile351Thr
ENST00000525870.6:c.1039-2818T>C ENSP00000435417.2:n.1039-2818T>C
ENST00000526737.6:c.*847T>C ENSP00000436366.2:n.*847T>C
ENST00000526849.6:c.1220T>C ENSP00000434388.2:p.Ile407Thr
ENST00000527099.2:c.1052T>C ENSP00000436064.2:p.Ile351Thr
ENST00000529139.6:c.1142T>C ENSP00000432953.2:p.Ile381Thr
ENST00000530608.6:c.1115T>C ENSP00000432381.2:p.Ile372Thr
ENST00000530910.6:c.1052T>C ENSP00000437033.2:p.Ile351Thr
ENST00000532306.6:c.1055T>C ENSP00000435626.2:p.Ile352Thr
ENST00000532440.6:c.1364T>C ENSP00000433429.2:p.Ile455Thr
ENST00000615266.5:c.1276+343T>C ENSP00000480742.2:n.1276+343T>C
ENST00000679444.1:c.1052T>C ENSP00000506099.1:p.Ile351Thr
ENST00000679497.1:c.1052T>C ENSP00000505407.1:p.Ile351Thr
ENST00000679539.1:c.*27T>C ENSP00000504910.1:n.*27T>C
ENST00000679559.1:c.1316T>C ENSP00000505433.1:p.Ile439Thr
ENST00000679581.1:n.2018T>C
ENST00000679648.1:c.*847T>C ENSP00000505726.1:n.*847T>C
ENST00000679685.1:c.*666T>C ENSP00000505698.1:n.*666T>C
ENST00000679697.1:c.*94T>C ENSP00000505696.1:n.*94T>C
ENST00000679874.1:c.*813T>C ENSP00000506314.1:n.*813T>C
ENST00000679986.1:c.*847T>C ENSP00000505614.1:n.*847T>C
ENST00000680063.1:c.*847T>C ENSP00000504928.1:n.*847T>C
ENST00000680101.1:c.1052T>C ENSP00000504917.1:p.Ile351Thr
ENST00000680142.1:n.1148T>C
ENST00000680223.1:c.*199T>C ENSP00000505023.1:n.*199T>C
ENST00000680256.1:c.1319T>C ENSP00000505074.1:p.Ile440Thr
ENST00000680329.1:c.1052T>C ENSP00000506215.1:p.Ile351Thr
ENST00000680398.1:c.1316T>C ENSP00000506189.1:p.Ile439Thr
ENST00000680399.1:c.1142T>C ENSP00000505984.1:p.Ile381Thr
ENST00000680459.1:c.*939T>C ENSP00000506617.1:n.*939T>C
ENST00000680467.1:c.*252T>C ENSP00000505609.1:n.*252T>C
ENST00000680499.1:c.1052T>C ENSP00000506092.1:p.Ile351Thr
ENST00000680580.1:c.1052T>C ENSP00000506170.1:p.Ile351Thr
ENST00000680643.1:c.1316T>C ENSP00000505207.1:p.Ile439Thr
ENST00000680761.1:c.1052T>C ENSP00000506421.1:p.Ile351Thr
ENST00000680797.1:c.*813T>C ENSP00000506717.1:n.*813T>C
ENST00000680829.1:c.1052T>C ENSP00000506408.1:p.Ile351Thr
ENST00000680866.1:c.*217T>C ENSP00000505649.1:n.*217T>C
ENST00000680996.1:c.*217T>C ENSP00000505468.1:n.*217T>C
ENST00000681221.1:c.1052T>C ENSP00000505136.1:p.Ile351Thr
ENST00000681225.1:c.1052T>C ENSP00000505016.1:p.Ile351Thr
ENST00000681351.1:c.*217T>C ENSP00000506652.1:n.*217T>C
ENST00000681384.1:c.*252T>C ENSP00000506249.1:n.*252T>C
ENST00000681417.1:c.1052T>C ENSP00000505965.1:p.Ile351Thr
ENST00000681489.1:c.1052T>C ENSP00000505200.1:p.Ile351Thr
ENST00000681575.1:c.1052T>C ENSP00000505743.1:p.Ile351Thr
ENST00000681699.1:c.1145T>C ENSP00000504969.1:p.Ile382Thr
ENST00000681723.1:c.*217T>C ENSP00000506059.1:n.*217T>C
ENST00000681765.1:c.878T>C ENSP00000505811.1:p.Ile293Thr
ENST00000681853.1:n.2010T>C
ENST00000681957.1:c.*217T>C ENSP00000506056.1:n.*217T>C
ENST00000299626.9:c.1316T>C ENSP00000299626.5:p.Ile439Thr
ENST00000376156.7:c.1316T>C ENSP00000365326.3:p.Ile439Thr
ENST00000525783.5:c.243-2818T>C
ENST00000526737.5:c.*948T>C ENSP00000436366.1:n.*948T>C
ENST00000526849.5:c.329T>C ENSP00000434388.1:p.Ile110Thr
ENST00000530608.5:c.421T>C
ENST00000531213.5:n.234T>C
ENST00000532306.5:c.676T>C
ENST00000532552.2:n.505T>C
ENST00000615266.4:c.1316T>C ENSP00000480742.1:p.Ile439Thr
NM_001007027.2:c.1316T>C NP_001007028.1:p.Ile439Thr
NM_024079.4:c.1316T>C NP_076984.2:p.Ile439Thr
XM_005274247.2:c.1289T>C XP_005274304.1:p.Ile430Thr
XM_011545251.1:c.1142T>C XP_011543553.1:p.Ile381Thr
XM_011545252.1:c.1052T>C XP_011543554.1:p.Ile351Thr
XR_428923.2:n.1354T>C
XR_950044.1:n.1248T>C
XR_950045.1:n.1248T>C
XM_005274247.3:c.1289T>C XP_005274304.1:p.Ile430Thr
XM_011545252.2:c.1052T>C XP_011543554.1:p.Ile351Thr
XM_017018274.1:c.1289T>C XP_016873763.1:p.Ile430Thr
XR_001747956.1:n.2104T>C
XR_428923.4:n.1337T>C
XR_950044.3:n.1231T>C
XR_950045.3:n.1231T>C
NM_024079.5:c.1316T>C MANE Select NP_076984.2:p.Ile439Thr
NM_001007027.3:c.1316T>C NP_001007028.1:p.Ile439Thr