Canonical Allele Identifier: CA355418490

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184243802G>T , CM000665.2:g.184243802G>T	GRCh38
NC_000003.11:g.183961590G>T , CM000665.1:g.183961590G>T	GRCh37
NC_000003.10:g.185444284G>T	NCBI36
NG_008924.2:g.10711C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.921C>A (ALG3) MANE Select	NP_005778.1:p.Cys307Ter
ENST00000397676.8:c.921C>A (ALG3) MANE Select	ENSP00000380793.3:p.Cys307Ter
NM_001006941.2:c.777C>A (ALG3)	NP_001006942.1:p.Cys259Ter
NM_005787.5:c.921C>A (ALG3)	NP_005778.1:p.Cys307Ter
NR_024533.1:n.852C>A (ALG3)
NR_024534.1:n.915C>A (ALG3)
ENST00000397676.7:c.921C>A (ALG3)	ENSP00000380793.3:p.Cys307Ter
ENST00000411922.5:c.*497C>A (ALG3)	ENSP00000394917.1:n.*497C>A
ENST00000414845.5:c.653C>A (ALG3)
ENST00000423996.5:c.*686C>A (ALG3)	ENSP00000407011.1:n.*686C>A
ENST00000444495.1:c.2106+99095G>T (EIF2B5)	ENSP00000409142.1:n.2106+99095G>T
ENST00000445626.6:c.777C>A (ALG3)	ENSP00000402744.2:p.Cys259Ter
ENST00000446569.1:c.631C>A (ALG3)
ENST00000455059.5:c.801C>A (ALG3)	ENSP00000397613.1:p.Cys267Ter
ENST00000462735.6:n.616C>A (ALG3)
ENST00000463495.5:n.195C>A (ALG3)
XM_011512322.1:c.822C>A (ALG3)	XP_011510624.1:p.Cys274Ter
XM_011512323.1:c.801C>A (ALG3)	XP_011510625.1:p.Cys267Ter
XM_011512323.2:c.801C>A (ALG3)	XP_011510625.1:p.Cys267Ter
XM_024453296.1:c.699C>A (ALG3)	XP_024309064.1:p.Cys233Ter