Canonical Allele Identifier: CA2729559

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245563G>A , CM000665.2:g.184245563G>A	GRCh38
NC_000003.11:g.183963351G>A , CM000665.1:g.183963351G>A	GRCh37
NC_000003.10:g.185446045G>A	NCBI36
NG_008924.2:g.8950C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.349C>T (ALG3) MANE Select	NP_005778.1:p.Arg117Ter
ENST00000397676.8:c.349C>T (ALG3) MANE Select	ENSP00000380793.3:p.Arg117Ter
NM_001006941.2:c.205C>T (ALG3)	NP_001006942.1:p.Arg69Ter
NM_005787.5:c.349C>T (ALG3)	NP_005778.1:p.Arg117Ter
NR_024533.1:n.280C>T (ALG3)
NR_024534.1:n.343C>T (ALG3)
ENST00000397676.7:c.349C>T (ALG3)	ENSP00000380793.3:p.Arg117Ter
ENST00000411922.5:c.249C>T (ALG3)	ENSP00000394917.1:p.Ala83=
ENST00000414845.5:c.242C>T (ALG3)
ENST00000423996.5:c.*114C>T (ALG3)	ENSP00000407011.1:n.*114C>T
ENST00000444495.1:c.2106+100856G>A (EIF2B5)	ENSP00000409142.1:n.2106+100856G>A
ENST00000445626.6:c.205C>T (ALG3)	ENSP00000402744.2:p.Arg69Ter
ENST00000446569.1:c.155-205C>T (ALG3)
ENST00000455059.5:c.229C>T (ALG3)	ENSP00000397613.1:p.Arg77Ter
ENST00000461415.5:n.322C>T (ALG3)
ENST00000482048.1:n.338C>T (ALG3)
ENST00000488976.5:n.234C>T (ALG3)
XM_011512322.1:c.250C>T (ALG3)	XP_011510624.1:p.Arg84Ter
XM_011512323.1:c.229C>T (ALG3)	XP_011510625.1:p.Arg77Ter
XM_011512323.2:c.229C>T (ALG3)	XP_011510625.1:p.Arg77Ter
XM_024453296.1:c.127C>T (ALG3)	XP_024309064.1:p.Arg43Ter