Canonical Allele Identifier: CA355422428

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245723C>G , CM000665.2:g.184245723C>G	GRCh38
NC_000003.11:g.183963511C>G , CM000665.1:g.183963511C>G	GRCh37
NC_000003.10:g.185446205C>G	NCBI36
NG_008924.2:g.8790G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.286G>C (ALG3) MANE Select	NP_005778.1:p.Gly96Arg
ENST00000397676.8:c.286G>C (ALG3) MANE Select	ENSP00000380793.3:p.Gly96Arg
NM_001006941.2:c.142G>C (ALG3)	NP_001006942.1:p.Gly48Arg
NM_005787.5:c.286G>C (ALG3)	NP_005778.1:p.Gly96Arg
NR_024533.1:n.228-108G>C (ALG3)
NR_024534.1:n.280G>C (ALG3)
ENST00000397676.7:c.286G>C (ALG3)	ENSP00000380793.3:p.Gly96Arg
ENST00000411922.5:c.197-108G>C (ALG3)	ENSP00000394917.1:n.197-108G>C
ENST00000414845.5:c.190-108G>C (ALG3)
ENST00000423996.5:c.*51G>C (ALG3)	ENSP00000407011.1:n.*51G>C
ENST00000444495.1:c.2106+101016C>G (EIF2B5)	ENSP00000409142.1:n.2106+101016C>G
ENST00000445626.6:c.142G>C (ALG3)	ENSP00000402744.2:p.Gly48Arg
ENST00000446569.1:c.155-365G>C (ALG3)
ENST00000455059.5:c.166G>C (ALG3)	ENSP00000397613.1:p.Gly56Arg
ENST00000461415.5:n.259G>C (ALG3)
ENST00000482048.1:n.275G>C (ALG3)
ENST00000488976.5:n.182-108G>C (ALG3)
XM_011512322.1:c.187G>C (ALG3)	XP_011510624.1:p.Gly63Arg
XM_011512323.1:c.166G>C (ALG3)	XP_011510625.1:p.Gly56Arg
XM_011512323.2:c.166G>C (ALG3)	XP_011510625.1:p.Gly56Arg
XM_024453296.1:c.64G>C (ALG3)	XP_024309064.1:p.Gly22Arg