Canonical Allele Identifier: CA1425931082

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245246A= , CM000665.2:g.184245246A=	GRCh38
NC_000003.11:g.183963034A= , CM000665.1:g.183963034A=	GRCh37
NC_000003.10:g.185445728A=	NCBI36
NG_008924.2:g.9267T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.557T= (ALG3) MANE Select	ENSP00000380793.3:p.Ile186=
ENST00000397676.7:c.557T= (ALG3)	ENSP00000380793.3:p.Ile186=
ENST00000411922.5:c.*133T= (ALG3)	ENSP00000394917.1:n.*133T=
ENST00000414845.5:c.337+222T= (ALG3)
ENST00000423996.5:c.*322T= (ALG3)	ENSP00000407011.1:n.*322T=
ENST00000444495.1:c.2106+100539A= (EIF2B5)	ENSP00000409142.1:n.2106+100539A=
ENST00000445626.6:c.413T= (ALG3)	ENSP00000402744.2:p.Ile138=
ENST00000446569.1:c.267T= (ALG3)
ENST00000455059.5:c.437T= (ALG3)	ENSP00000397613.1:p.Ile146=
ENST00000461415.5:n.530T= (ALG3)
ENST00000477959.1:n.97T= (ALG3)
ENST00000482048.1:n.546T= (ALG3)
ENST00000488976.5:n.442T= (ALG3)
NM_001006941.2:c.413T= (ALG3)	NP_001006942.1:p.Ile138=
NM_005787.5:c.557T= (ALG3)	NP_005778.1:p.Ile186=
NR_024533.1:n.488T= (ALG3)
NR_024534.1:n.551T= (ALG3)
XM_011512322.1:c.458T= (ALG3)	XP_011510624.1:p.Ile153=
XM_011512323.1:c.437T= (ALG3)	XP_011510625.1:p.Ile146=
XM_011512323.2:c.437T= (ALG3)	XP_011510625.1:p.Ile146=
XM_024453296.1:c.335T= (ALG3)	XP_024309064.1:p.Ile112=
NM_005787.6:c.557T= (ALG3) MANE Select	NP_005778.1:p.Ile186=