Canonical Allele Identifier: CA10639470

Gene: ALG8

Linked Data

• ClinVar Variation Id: 306212
• ClinVar RCV Id: RCV000343060 ; RCV002520773 ; RCV002494956
• dbSNP Id: rs886048685
• gnomAD v2: 11-77815021-A-G
• gnomAD v3: 11-78103975-A-G
• gnomAD v4: 11-78103975-A-G
• MyVariant Identifiers: chr11:g.77815021A>G (hg19) ; chr11:g.78103975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78103975A>G , CM000673.2:g.78103975A>G	GRCh38
NC_000011.9:g.77815021A>G , CM000673.1:g.77815021A>G	GRCh37
NC_000011.8:g.77492669A>G	NCBI36
NG_008926.1:g.40679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299626.10:c.1349+5T>C MANE Select	ENSP00000299626.5:n.1349+5T>C
ENST00000524925.2:n.1427+5T>C
ENST00000525761.3:c.1085+5T>C	ENSP00000431357.3:n.1085+5T>C
ENST00000525783.6:c.1085+5T>C	ENSP00000434066.2:n.1085+5T>C
ENST00000525870.6:c.1039-2780T>C	ENSP00000435417.2:n.1039-2780T>C
ENST00000526737.6:c.*880+5T>C	ENSP00000436366.2:n.*880+5T>C
ENST00000526849.6:c.1253+5T>C	ENSP00000434388.2:n.1253+5T>C
ENST00000527099.2:c.1085+5T>C	ENSP00000436064.2:n.1085+5T>C
ENST00000529139.6:c.1175+5T>C	ENSP00000432953.2:n.1175+5T>C
ENST00000530608.6:c.1148+5T>C	ENSP00000432381.2:n.1148+5T>C
ENST00000530910.6:c.1085+5T>C	ENSP00000437033.2:n.1085+5T>C
ENST00000532306.6:c.1088+5T>C	ENSP00000435626.2:n.1088+5T>C
ENST00000532440.6:c.1397+5T>C	ENSP00000433429.2:n.1397+5T>C
ENST00000615266.5:c.1276+381T>C	ENSP00000480742.2:n.1276+381T>C
ENST00000679444.1:c.1085+5T>C	ENSP00000506099.1:n.1085+5T>C
ENST00000679497.1:c.1085+5T>C	ENSP00000505407.1:n.1085+5T>C
ENST00000679539.1:c.*60+5T>C	ENSP00000504910.1:n.*60+5T>C
ENST00000679559.1:c.1349+5T>C	ENSP00000505433.1:n.1349+5T>C
ENST00000679581.1:n.2051+5T>C
ENST00000679648.1:c.*880+5T>C	ENSP00000505726.1:n.*880+5T>C
ENST00000679685.1:c.*699+5T>C	ENSP00000505698.1:n.*699+5T>C
ENST00000679697.1:c.*127+5T>C	ENSP00000505696.1:n.*127+5T>C
ENST00000679874.1:c.*846+5T>C	ENSP00000506314.1:n.*846+5T>C
ENST00000679986.1:c.*880+5T>C	ENSP00000505614.1:n.*880+5T>C
ENST00000680063.1:c.*880+5T>C	ENSP00000504928.1:n.*880+5T>C
ENST00000680101.1:c.1085+5T>C	ENSP00000504917.1:n.1085+5T>C
ENST00000680142.1:n.1181+5T>C
ENST00000680223.1:c.*232+5T>C	ENSP00000505023.1:n.*232+5T>C
ENST00000680256.1:c.1352+5T>C	ENSP00000505074.1:n.1352+5T>C
ENST00000680329.1:c.1085+5T>C	ENSP00000506215.1:n.1085+5T>C
ENST00000680398.1:c.1349+5T>C	ENSP00000506189.1:n.1349+5T>C
ENST00000680399.1:c.1175+5T>C	ENSP00000505984.1:n.1175+5T>C
ENST00000680459.1:c.*972+5T>C	ENSP00000506617.1:n.*972+5T>C
ENST00000680467.1:c.*285+5T>C	ENSP00000505609.1:n.*285+5T>C
ENST00000680499.1:c.1085+5T>C	ENSP00000506092.1:n.1085+5T>C
ENST00000680580.1:c.1085+5T>C	ENSP00000506170.1:n.1085+5T>C
ENST00000680643.1:c.*1T>C	ENSP00000505207.1:n.*1T>C
ENST00000680761.1:c.1085+5T>C	ENSP00000506421.1:n.1085+5T>C
ENST00000680797.1:c.*846+5T>C	ENSP00000506717.1:n.*846+5T>C
ENST00000680829.1:c.1085+5T>C	ENSP00000506408.1:n.1085+5T>C
ENST00000680866.1:c.*250+5T>C	ENSP00000505649.1:n.*250+5T>C
ENST00000680996.1:c.*250+5T>C	ENSP00000505468.1:n.*250+5T>C
ENST00000681221.1:c.1085+5T>C	ENSP00000505136.1:n.1085+5T>C
ENST00000681225.1:c.1085+5T>C	ENSP00000505016.1:n.1085+5T>C
ENST00000681351.1:c.*250+5T>C	ENSP00000506652.1:n.*250+5T>C
ENST00000681384.1:c.*285+5T>C	ENSP00000506249.1:n.*285+5T>C
ENST00000681417.1:c.1085+5T>C	ENSP00000505965.1:n.1085+5T>C
ENST00000681489.1:c.1085+5T>C	ENSP00000505200.1:n.1085+5T>C
ENST00000681575.1:c.1085+5T>C	ENSP00000505743.1:n.1085+5T>C
ENST00000681699.1:c.1178+5T>C	ENSP00000504969.1:n.1178+5T>C
ENST00000681723.1:c.*250+5T>C	ENSP00000506059.1:n.*250+5T>C
ENST00000681765.1:c.911+5T>C	ENSP00000505811.1:n.911+5T>C
ENST00000681853.1:n.2043+5T>C
ENST00000681957.1:c.*250+5T>C	ENSP00000506056.1:n.*250+5T>C
ENST00000299626.9:c.1349+5T>C	ENSP00000299626.5:n.1349+5T>C
ENST00000376156.7:c.1349+5T>C	ENSP00000365326.3:n.1349+5T>C
ENST00000525783.5:c.243-2780T>C
ENST00000526737.5:c.*981+5T>C	ENSP00000436366.1:n.*981+5T>C
ENST00000526849.5:c.362+5T>C	ENSP00000434388.1:n.362+5T>C
ENST00000530608.5:c.454+5T>C
ENST00000531213.5:n.267+5T>C
ENST00000532306.5:c.709+5T>C
ENST00000532552.2:n.538+5T>C
ENST00000615266.4:c.1349+5T>C	ENSP00000480742.1:n.1349+5T>C
NM_001007027.2:c.1349+5T>C	NP_001007028.1:n.1349+5T>C
NM_024079.4:c.1349+5T>C	NP_076984.2:n.1349+5T>C
XM_005274247.2:c.1322+5T>C	XP_005274304.1:n.1322+5T>C
XM_011545251.1:c.1175+5T>C	XP_011543553.1:n.1175+5T>C
XM_011545252.1:c.1085+5T>C	XP_011543554.1:n.1085+5T>C
XR_428923.2:n.1387+5T>C
XR_950044.1:n.1281+5T>C
XR_950045.1:n.1281+5T>C
XM_005274247.3:c.1322+5T>C	XP_005274304.1:n.1322+5T>C
XM_011545252.2:c.1085+5T>C	XP_011543554.1:n.1085+5T>C
XM_017018274.1:c.1322+5T>C	XP_016873763.1:n.1322+5T>C
XR_001747956.1:n.2137+5T>C
XR_428923.4:n.1370+5T>C
XR_950044.3:n.1264+5T>C
XR_950045.3:n.1264+5T>C
NM_024079.5:c.1349+5T>C MANE Select	NP_076984.2:n.1349+5T>C
NM_001007027.3:c.1349+5T>C	NP_001007028.1:n.1349+5T>C