Canonical Allele Identifier: CA2729416

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184243927G>A , CM000665.2:g.184243927G>A	GRCh38
NC_000003.11:g.183961715G>A , CM000665.1:g.183961715G>A	GRCh37
NC_000003.10:g.185444409G>A	NCBI36
NG_008924.2:g.10586C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.796C>T (ALG3) MANE Select	NP_005778.1:p.Arg266Cys
ENST00000397676.8:c.796C>T (ALG3) MANE Select	ENSP00000380793.3:p.Arg266Cys
NM_001006941.2:c.652C>T (ALG3)	NP_001006942.1:p.Arg218Cys
NM_005787.5:c.796C>T (ALG3)	NP_005778.1:p.Arg266Cys
NR_024533.1:n.727C>T (ALG3)
NR_024534.1:n.790C>T (ALG3)
ENST00000397676.7:c.796C>T (ALG3)	ENSP00000380793.3:p.Arg266Cys
ENST00000411922.5:c.*372C>T (ALG3)	ENSP00000394917.1:n.*372C>T
ENST00000414845.5:c.528C>T (ALG3)
ENST00000423996.5:c.*561C>T (ALG3)	ENSP00000407011.1:n.*561C>T
ENST00000444495.1:c.2106+99220G>A (EIF2B5)	ENSP00000409142.1:n.2106+99220G>A
ENST00000445626.6:c.652C>T (ALG3)	ENSP00000402744.2:p.Arg218Cys
ENST00000446569.1:c.506C>T (ALG3)
ENST00000455059.5:c.676C>T (ALG3)	ENSP00000397613.1:p.Arg226Cys
ENST00000462735.6:n.491C>T (ALG3)
ENST00000463495.5:n.70C>T (ALG3)
XM_011512322.1:c.697C>T (ALG3)	XP_011510624.1:p.Arg233Cys
XM_011512323.1:c.676C>T (ALG3)	XP_011510625.1:p.Arg226Cys
XM_011512323.2:c.676C>T (ALG3)	XP_011510625.1:p.Arg226Cys
XM_024453296.1:c.574C>T (ALG3)	XP_024309064.1:p.Arg192Cys