Canonical Allele Identifier: CA2729331

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184242906C>T , CM000665.2:g.184242906C>T	GRCh38
NC_000003.11:g.183960694C>T , CM000665.1:g.183960694C>T	GRCh37
NC_000003.10:g.185443388C>T	NCBI36
NG_008924.2:g.11607G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.1061G>A (ALG3) MANE Select	NP_005778.1:p.Arg354His
ENST00000397676.8:c.1061G>A (ALG3) MANE Select	ENSP00000380793.3:p.Arg354His
NM_001006941.2:c.917G>A (ALG3)	NP_001006942.1:p.Arg306His
NM_005787.5:c.1061G>A (ALG3)	NP_005778.1:p.Arg354His
NR_024533.1:n.992G>A (ALG3)
NR_024534.1:n.1055G>A (ALG3)
ENST00000397676.7:c.1061G>A (ALG3)	ENSP00000380793.3:p.Arg354His
ENST00000411922.5:c.*637G>A (ALG3)	ENSP00000394917.1:n.*637G>A
ENST00000414845.5:c.793G>A (ALG3)
ENST00000444495.1:c.2106+98199C>T (EIF2B5)	ENSP00000409142.1:n.2106+98199C>T
ENST00000445626.6:c.917G>A (ALG3)	ENSP00000402744.2:p.Arg306His
ENST00000446569.1:c.771G>A (ALG3)
ENST00000455059.5:c.941G>A (ALG3)	ENSP00000397613.1:p.Arg314His
ENST00000485912.1:n.684G>A (ALG3)
XM_011512322.1:c.962G>A (ALG3)	XP_011510624.1:p.Arg321His
XM_011512323.1:c.941G>A (ALG3)	XP_011510625.1:p.Arg314His
XM_011512323.2:c.941G>A (ALG3)	XP_011510625.1:p.Arg314His
XM_024453296.1:c.839G>A (ALG3)	XP_024309064.1:p.Arg280His