Canonical Allele Identifier: CA2729332

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184242907G>A , CM000665.2:g.184242907G>A	GRCh38
NC_000003.11:g.183960695G>A , CM000665.1:g.183960695G>A	GRCh37
NC_000003.10:g.185443389G>A	NCBI36
NG_008924.2:g.11606C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.1060C>T (ALG3) MANE Select	NP_005778.1:p.Arg354Cys
ENST00000397676.8:c.1060C>T (ALG3) MANE Select	ENSP00000380793.3:p.Arg354Cys
NM_001006941.2:c.916C>T (ALG3)	NP_001006942.1:p.Arg306Cys
NM_005787.5:c.1060C>T (ALG3)	NP_005778.1:p.Arg354Cys
NR_024533.1:n.991C>T (ALG3)
NR_024534.1:n.1054C>T (ALG3)
ENST00000397676.7:c.1060C>T (ALG3)	ENSP00000380793.3:p.Arg354Cys
ENST00000411922.5:c.*636C>T (ALG3)	ENSP00000394917.1:n.*636C>T
ENST00000414845.5:c.792C>T (ALG3)
ENST00000444495.1:c.2106+98200G>A (EIF2B5)	ENSP00000409142.1:n.2106+98200G>A
ENST00000445626.6:c.916C>T (ALG3)	ENSP00000402744.2:p.Arg306Cys
ENST00000446569.1:c.770C>T (ALG3)
ENST00000455059.5:c.940C>T (ALG3)	ENSP00000397613.1:p.Arg314Cys
ENST00000485912.1:n.683C>T (ALG3)
XM_011512322.1:c.961C>T (ALG3)	XP_011510624.1:p.Arg321Cys
XM_011512323.1:c.940C>T (ALG3)	XP_011510625.1:p.Arg314Cys
XM_011512323.2:c.940C>T (ALG3)	XP_011510625.1:p.Arg314Cys
XM_024453296.1:c.838C>T (ALG3)	XP_024309064.1:p.Arg280Cys