Canonical Allele Identifier: CA6203106
Community Standard Title: NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr)
Gene: ALG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78101029C>T , CM000673.2:g.78101029C>T GRCh38
NC_000011.9:g.77812075C>T , CM000673.1:g.77812075C>T GRCh37
NC_000011.8:g.77489723C>T NCBI36
NG_008926.1:g.43625G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024079.5:c.1516G>A MANE Select NP_076984.2:p.Ala506Thr
ENST00000299626.10:c.1516G>A MANE Select ENSP00000299626.5:p.Ala506Thr
NM_001007027.2:c.*187G>A NP_001007028.1:n.*187G>A
NM_001007027.3:c.*187G>A NP_001007028.1:n.*187G>A
NM_024079.4:c.1516G>A NP_076984.2:p.Ala506Thr
ENST00000299626.9:c.1516G>A ENSP00000299626.5:p.Ala506Thr
ENST00000376156.7:c.*187G>A ENSP00000365326.3:n.*187G>A
ENST00000524925.2:n.1594G>A
ENST00000525761.3:c.1252G>A ENSP00000431357.3:p.Ala418Thr
ENST00000525783.5:c.409G>A
ENST00000525783.6:c.1252G>A ENSP00000434066.2:p.Ala418Thr
ENST00000525870.6:c.1205G>A ENSP00000435417.2:n.1205G>A
ENST00000526737.5:c.*1148G>A ENSP00000436366.1:n.*1148G>A
ENST00000526737.6:c.*1047G>A ENSP00000436366.2:n.*1047G>A
ENST00000526849.5:c.529G>A ENSP00000434388.1:p.Ala177Thr
ENST00000526849.6:c.1420G>A ENSP00000434388.2:p.Ala474Thr
ENST00000527099.2:c.1252G>A ENSP00000436064.2:p.Ala418Thr
ENST00000529139.6:c.1342G>A ENSP00000432953.2:p.Ala448Thr
ENST00000530608.5:c.621G>A
ENST00000530608.6:c.1315G>A ENSP00000432381.2:p.Ala439Thr
ENST00000530910.6:c.1252G>A ENSP00000437033.2:p.Ala418Thr
ENST00000531213.5:n.434G>A
ENST00000532306.6:c.1255G>A ENSP00000435626.2:p.Ala419Thr
ENST00000532440.6:c.1564G>A ENSP00000433429.2:p.Ala522Thr
ENST00000679444.1:c.1252G>A ENSP00000506099.1:p.Ala418Thr
ENST00000679497.1:c.1252G>A ENSP00000505407.1:p.Ala418Thr
ENST00000679539.1:c.*227G>A ENSP00000504910.1:n.*227G>A
ENST00000679559.1:c.1452+64G>A ENSP00000505433.1:n.1452+64G>A
ENST00000679581.1:n.2218G>A
ENST00000679648.1:c.*1122G>A ENSP00000505726.1:n.*1122G>A
ENST00000679685.1:c.*866G>A ENSP00000505698.1:n.*866G>A
ENST00000679697.1:c.*294G>A ENSP00000505696.1:n.*294G>A
ENST00000679874.1:c.*1013G>A ENSP00000506314.1:n.*1013G>A
ENST00000679986.1:c.*1047G>A ENSP00000505614.1:n.*1047G>A
ENST00000680063.1:c.*1047G>A ENSP00000504928.1:n.*1047G>A
ENST00000680101.1:c.*187G>A ENSP00000504917.1:n.*187G>A
ENST00000680142.1:n.1348G>A
ENST00000680223.1:c.*399G>A ENSP00000505023.1:n.*399G>A
ENST00000680256.1:c.1519G>A ENSP00000505074.1:p.Ala507Thr
ENST00000680329.1:c.1252G>A ENSP00000506215.1:p.Ala418Thr
ENST00000680398.1:c.1452+64G>A ENSP00000506189.1:n.1452+64G>A
ENST00000680399.1:c.*187G>A ENSP00000505984.1:n.*187G>A
ENST00000680459.1:c.*1139G>A ENSP00000506617.1:n.*1139G>A
ENST00000680467.1:c.*452G>A ENSP00000505609.1:n.*452G>A
ENST00000680499.1:c.*187G>A ENSP00000506092.1:n.*187G>A
ENST00000680580.1:c.1252G>A ENSP00000506170.1:p.Ala418Thr
ENST00000680761.1:c.1252G>A ENSP00000506421.1:p.Ala418Thr
ENST00000680797.1:c.*1013G>A ENSP00000506717.1:n.*1013G>A
ENST00000680829.1:c.*187G>A ENSP00000506408.1:n.*187G>A
ENST00000680866.1:c.*417G>A ENSP00000505649.1:n.*417G>A
ENST00000680996.1:c.*492G>A ENSP00000505468.1:n.*492G>A
ENST00000681221.1:c.*187G>A ENSP00000505136.1:n.*187G>A
ENST00000681225.1:c.1252G>A ENSP00000505016.1:p.Ala418Thr
ENST00000681351.1:c.*417G>A ENSP00000506652.1:n.*417G>A
ENST00000681384.1:c.*452G>A ENSP00000506249.1:n.*452G>A
ENST00000681417.1:c.1252G>A ENSP00000505965.1:p.Ala418Thr
ENST00000681489.1:c.1252G>A ENSP00000505200.1:p.Ala418Thr
ENST00000681575.1:c.1252G>A ENSP00000505743.1:p.Ala418Thr
ENST00000681699.1:c.1345G>A ENSP00000504969.1:p.Ala449Thr
ENST00000681723.1:c.*417G>A ENSP00000506059.1:n.*417G>A
ENST00000681765.1:c.1078G>A ENSP00000505811.1:p.Ala360Thr
ENST00000681853.1:n.2210G>A
XM_005274247.2:c.1489G>A XP_005274304.1:p.Ala497Thr
XM_005274247.3:c.1489G>A XP_005274304.1:p.Ala497Thr
XM_011545251.1:c.1342G>A XP_011543553.1:p.Ala448Thr
XM_011545252.1:c.1252G>A XP_011543554.1:p.Ala418Thr
XM_011545252.2:c.1252G>A XP_011543554.1:p.Ala418Thr
XM_017018274.1:c.*187G>A XP_016873763.1:n.*187G>A
XR_001747956.1:n.2304G>A
XR_428923.2:n.1554G>A
XR_428923.4:n.1537G>A
XR_950044.1:n.1448G>A
XR_950044.3:n.1431G>A
XR_950045.1:n.1523G>A
XR_950045.3:n.1506G>A