Canonical Allele Identifier: CA1425931114

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245310G= , CM000665.2:g.184245310G=	GRCh38
NC_000003.11:g.183963098G= , CM000665.1:g.183963098G=	GRCh37
NC_000003.10:g.185445792G=	NCBI36
NG_008924.2:g.9203C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.493C= (ALG3) MANE Select	ENSP00000380793.3:p.His165=
ENST00000397676.7:c.493C= (ALG3)	ENSP00000380793.3:p.His165=
ENST00000411922.5:c.*69C= (ALG3)	ENSP00000394917.1:n.*69C=
ENST00000414845.5:c.337+158C= (ALG3)
ENST00000423996.5:c.*258C= (ALG3)	ENSP00000407011.1:n.*258C=
ENST00000444495.1:c.2106+100603G= (EIF2B5)	ENSP00000409142.1:n.2106+100603G=
ENST00000445626.6:c.349C= (ALG3)	ENSP00000402744.2:p.His117=
ENST00000446569.1:c.203C= (ALG3)
ENST00000455059.5:c.373C= (ALG3)	ENSP00000397613.1:p.His125=
ENST00000461415.5:n.466C= (ALG3)
ENST00000477959.1:n.33C= (ALG3)
ENST00000482048.1:n.482C= (ALG3)
ENST00000488976.5:n.378C= (ALG3)
NM_001006941.2:c.349C= (ALG3)	NP_001006942.1:p.His117=
NM_005787.5:c.493C= (ALG3)	NP_005778.1:p.His165=
NR_024533.1:n.424C= (ALG3)
NR_024534.1:n.487C= (ALG3)
XM_011512322.1:c.394C= (ALG3)	XP_011510624.1:p.His132=
XM_011512323.1:c.373C= (ALG3)	XP_011510625.1:p.His125=
XM_011512323.2:c.373C= (ALG3)	XP_011510625.1:p.His125=
XM_024453296.1:c.271C= (ALG3)	XP_024309064.1:p.His91=
NM_005787.6:c.493C= (ALG3) MANE Select	NP_005778.1:p.His165=