Canonical Allele Identifier: CA6203109

Gene: ALG8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78101039G>A , CM000673.2:g.78101039G>A	GRCh38
NC_000011.9:g.77812085G>A , CM000673.1:g.77812085G>A	GRCh37
NC_000011.8:g.77489733G>A	NCBI36
NG_008926.1:g.43615C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024079.5:c.1506C>T MANE Select	NP_076984.2:p.Gly502=
ENST00000299626.10:c.1506C>T MANE Select	ENSP00000299626.5:p.Gly502=
NM_001007027.2:c.*177C>T	NP_001007028.1:n.*177C>T
NM_001007027.3:c.*177C>T	NP_001007028.1:n.*177C>T
NM_024079.4:c.1506C>T	NP_076984.2:p.Gly502=
ENST00000299626.9:c.1506C>T	ENSP00000299626.5:p.Gly502=
ENST00000376156.7:c.*177C>T	ENSP00000365326.3:n.*177C>T
ENST00000524925.2:n.1584C>T
ENST00000525761.3:c.1242C>T	ENSP00000431357.3:p.Gly414=
ENST00000525783.5:c.399C>T
ENST00000525783.6:c.1242C>T	ENSP00000434066.2:p.Gly414=
ENST00000525870.6:c.1195C>T	ENSP00000435417.2:n.1195C>T
ENST00000526737.5:c.*1138C>T	ENSP00000436366.1:n.*1138C>T
ENST00000526737.6:c.*1037C>T	ENSP00000436366.2:n.*1037C>T
ENST00000526849.5:c.519C>T	ENSP00000434388.1:p.Gly173=
ENST00000526849.6:c.1410C>T	ENSP00000434388.2:p.Gly470=
ENST00000527099.2:c.1242C>T	ENSP00000436064.2:p.Gly414=
ENST00000529139.6:c.1332C>T	ENSP00000432953.2:p.Gly444=
ENST00000530608.5:c.611C>T
ENST00000530608.6:c.1305C>T	ENSP00000432381.2:p.Gly435=
ENST00000530910.6:c.1242C>T	ENSP00000437033.2:p.Gly414=
ENST00000531213.5:n.424C>T
ENST00000532306.6:c.1245C>T	ENSP00000435626.2:p.Gly415=
ENST00000532440.6:c.1554C>T	ENSP00000433429.2:p.Gly518=
ENST00000679444.1:c.1242C>T	ENSP00000506099.1:p.Gly414=
ENST00000679497.1:c.1242C>T	ENSP00000505407.1:p.Gly414=
ENST00000679539.1:c.*217C>T	ENSP00000504910.1:n.*217C>T
ENST00000679559.1:c.1452+54C>T	ENSP00000505433.1:n.1452+54C>T
ENST00000679581.1:n.2208C>T
ENST00000679648.1:c.*1112C>T	ENSP00000505726.1:n.*1112C>T
ENST00000679685.1:c.*856C>T	ENSP00000505698.1:n.*856C>T
ENST00000679697.1:c.*284C>T	ENSP00000505696.1:n.*284C>T
ENST00000679874.1:c.*1003C>T	ENSP00000506314.1:n.*1003C>T
ENST00000679986.1:c.*1037C>T	ENSP00000505614.1:n.*1037C>T
ENST00000680063.1:c.*1037C>T	ENSP00000504928.1:n.*1037C>T
ENST00000680101.1:c.*177C>T	ENSP00000504917.1:n.*177C>T
ENST00000680142.1:n.1338C>T
ENST00000680223.1:c.*389C>T	ENSP00000505023.1:n.*389C>T
ENST00000680256.1:c.1509C>T	ENSP00000505074.1:p.Gly503=
ENST00000680329.1:c.1242C>T	ENSP00000506215.1:p.Gly414=
ENST00000680398.1:c.1452+54C>T	ENSP00000506189.1:n.1452+54C>T
ENST00000680399.1:c.*177C>T	ENSP00000505984.1:n.*177C>T
ENST00000680459.1:c.*1129C>T	ENSP00000506617.1:n.*1129C>T
ENST00000680467.1:c.*442C>T	ENSP00000505609.1:n.*442C>T
ENST00000680499.1:c.*177C>T	ENSP00000506092.1:n.*177C>T
ENST00000680580.1:c.1242C>T	ENSP00000506170.1:p.Gly414=
ENST00000680761.1:c.1242C>T	ENSP00000506421.1:p.Gly414=
ENST00000680797.1:c.*1003C>T	ENSP00000506717.1:n.*1003C>T
ENST00000680829.1:c.*177C>T	ENSP00000506408.1:n.*177C>T
ENST00000680866.1:c.*407C>T	ENSP00000505649.1:n.*407C>T
ENST00000680996.1:c.*482C>T	ENSP00000505468.1:n.*482C>T
ENST00000681221.1:c.*177C>T	ENSP00000505136.1:n.*177C>T
ENST00000681225.1:c.1242C>T	ENSP00000505016.1:p.Gly414=
ENST00000681351.1:c.*407C>T	ENSP00000506652.1:n.*407C>T
ENST00000681384.1:c.*442C>T	ENSP00000506249.1:n.*442C>T
ENST00000681417.1:c.1242C>T	ENSP00000505965.1:p.Gly414=
ENST00000681489.1:c.1242C>T	ENSP00000505200.1:p.Gly414=
ENST00000681575.1:c.1242C>T	ENSP00000505743.1:p.Gly414=
ENST00000681699.1:c.1335C>T	ENSP00000504969.1:p.Gly445=
ENST00000681723.1:c.*407C>T	ENSP00000506059.1:n.*407C>T
ENST00000681765.1:c.1068C>T	ENSP00000505811.1:p.Gly356=
ENST00000681853.1:n.2200C>T
XM_005274247.2:c.1479C>T	XP_005274304.1:p.Gly493=
XM_005274247.3:c.1479C>T	XP_005274304.1:p.Gly493=
XM_011545251.1:c.1332C>T	XP_011543553.1:p.Gly444=
XM_011545252.1:c.1242C>T	XP_011543554.1:p.Gly414=
XM_011545252.2:c.1242C>T	XP_011543554.1:p.Gly414=
XM_017018274.1:c.*177C>T	XP_016873763.1:n.*177C>T
XR_001747956.1:n.2294C>T
XR_428923.2:n.1544C>T
XR_428923.4:n.1527C>T
XR_950044.1:n.1438C>T
XR_950044.3:n.1421C>T
XR_950045.1:n.1513C>T
XR_950045.3:n.1496C>T