Canonical Allele Identifier: CA2729557

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245562C>G , CM000665.2:g.184245562C>G	GRCh38
NC_000003.11:g.183963350C>G , CM000665.1:g.183963350C>G	GRCh37
NC_000003.10:g.185446044C>G	NCBI36
NG_008924.2:g.8951G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.350G>C (ALG3) MANE Select	NP_005778.1:p.Arg117Pro
ENST00000397676.8:c.350G>C (ALG3) MANE Select	ENSP00000380793.3:p.Arg117Pro
NM_001006941.2:c.206G>C (ALG3)	NP_001006942.1:p.Arg69Pro
NM_005787.5:c.350G>C (ALG3)	NP_005778.1:p.Arg117Pro
NR_024533.1:n.281G>C (ALG3)
NR_024534.1:n.344G>C (ALG3)
ENST00000397676.7:c.350G>C (ALG3)	ENSP00000380793.3:p.Arg117Pro
ENST00000411922.5:c.250G>C (ALG3)	ENSP00000394917.1:p.Glu84Gln
ENST00000414845.5:c.243G>C (ALG3)
ENST00000423996.5:c.*115G>C (ALG3)	ENSP00000407011.1:n.*115G>C
ENST00000444495.1:c.2106+100855C>G (EIF2B5)	ENSP00000409142.1:n.2106+100855C>G
ENST00000445626.6:c.206G>C (ALG3)	ENSP00000402744.2:p.Arg69Pro
ENST00000446569.1:c.155-204G>C (ALG3)
ENST00000455059.5:c.230G>C (ALG3)	ENSP00000397613.1:p.Arg77Pro
ENST00000461415.5:n.323G>C (ALG3)
ENST00000482048.1:n.339G>C (ALG3)
ENST00000488976.5:n.235G>C (ALG3)
XM_011512322.1:c.251G>C (ALG3)	XP_011510624.1:p.Arg84Pro
XM_011512323.1:c.230G>C (ALG3)	XP_011510625.1:p.Arg77Pro
XM_011512323.2:c.230G>C (ALG3)	XP_011510625.1:p.Arg77Pro
XM_024453296.1:c.128G>C (ALG3)	XP_024309064.1:p.Arg43Pro