Canonical Allele Identifier: CA2729307

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184242813C>G , CM000665.2:g.184242813C>G	GRCh38
NC_000003.11:g.183960601C>G , CM000665.1:g.183960601C>G	GRCh37
NC_000003.10:g.185443295C>G	NCBI36
NG_008924.2:g.11700G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.1154G>C (ALG3) MANE Select	NP_005778.1:p.Arg385Thr
ENST00000397676.8:c.1154G>C (ALG3) MANE Select	ENSP00000380793.3:p.Arg385Thr
NM_001006941.2:c.1010G>C (ALG3)	NP_001006942.1:p.Arg337Thr
NM_005787.5:c.1154G>C (ALG3)	NP_005778.1:p.Arg385Thr
NR_024533.1:n.1085G>C (ALG3)
NR_024534.1:n.1148G>C (ALG3)
ENST00000397676.7:c.1154G>C (ALG3)	ENSP00000380793.3:p.Arg385Thr
ENST00000411922.5:c.*730G>C (ALG3)	ENSP00000394917.1:n.*730G>C
ENST00000444495.1:c.2106+98106C>G (EIF2B5)	ENSP00000409142.1:n.2106+98106C>G
ENST00000445626.6:c.1010G>C (ALG3)	ENSP00000402744.2:p.Arg337Thr
ENST00000446569.1:c.864G>C (ALG3)
ENST00000455059.5:c.1034G>C (ALG3)	ENSP00000397613.1:p.Arg345Thr
ENST00000485912.1:n.777G>C (ALG3)
XM_011512322.1:c.1055G>C (ALG3)	XP_011510624.1:p.Arg352Thr
XM_011512323.1:c.1034G>C (ALG3)	XP_011510625.1:p.Arg345Thr
XM_011512323.2:c.1034G>C (ALG3)	XP_011510625.1:p.Arg345Thr
XM_024453296.1:c.932G>C (ALG3)	XP_024309064.1:p.Arg311Thr