Canonical Allele Identifier: CA2729335

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184242943G>T , CM000665.2:g.184242943G>T	GRCh38
NC_000003.11:g.183960731G>T , CM000665.1:g.183960731G>T	GRCh37
NC_000003.10:g.185443425G>T	NCBI36
NG_008924.2:g.11570C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.1024C>A (ALG3) MANE Select	NP_005778.1:p.Leu342Ile
ENST00000397676.8:c.1024C>A (ALG3) MANE Select	ENSP00000380793.3:p.Leu342Ile
NM_001006941.2:c.880C>A (ALG3)	NP_001006942.1:p.Leu294Ile
NM_005787.5:c.1024C>A (ALG3)	NP_005778.1:p.Leu342Ile
NR_024533.1:n.955C>A (ALG3)
NR_024534.1:n.1018C>A (ALG3)
ENST00000397676.7:c.1024C>A (ALG3)	ENSP00000380793.3:p.Leu342Ile
ENST00000411922.5:c.*600C>A (ALG3)	ENSP00000394917.1:n.*600C>A
ENST00000414845.5:c.756C>A (ALG3)
ENST00000444495.1:c.2106+98236G>T (EIF2B5)	ENSP00000409142.1:n.2106+98236G>T
ENST00000445626.6:c.880C>A (ALG3)	ENSP00000402744.2:p.Leu294Ile
ENST00000446569.1:c.734C>A (ALG3)
ENST00000455059.5:c.904C>A (ALG3)	ENSP00000397613.1:p.Leu302Ile
ENST00000485912.1:n.647C>A (ALG3)
XM_011512322.1:c.925C>A (ALG3)	XP_011510624.1:p.Leu309Ile
XM_011512323.1:c.904C>A (ALG3)	XP_011510625.1:p.Leu302Ile
XM_011512323.2:c.904C>A (ALG3)	XP_011510625.1:p.Leu302Ile
XM_024453296.1:c.802C>A (ALG3)	XP_024309064.1:p.Leu268Ile