Canonical Allele Identifier: CA1425931078

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245240A= , CM000665.2:g.184245240A=	GRCh38
NC_000003.11:g.183963028A= , CM000665.1:g.183963028A=	GRCh37
NC_000003.10:g.185445722A=	NCBI36
NG_008924.2:g.9273T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.563T= (ALG3) MANE Select	ENSP00000380793.3:p.Leu188=
ENST00000397676.7:c.563T= (ALG3)	ENSP00000380793.3:p.Leu188=
ENST00000411922.5:c.*139T= (ALG3)	ENSP00000394917.1:n.*139T=
ENST00000414845.5:c.337+228T= (ALG3)
ENST00000423996.5:c.*328T= (ALG3)	ENSP00000407011.1:n.*328T=
ENST00000444495.1:c.2106+100533A= (EIF2B5)	ENSP00000409142.1:n.2106+100533A=
ENST00000445626.6:c.419T= (ALG3)	ENSP00000402744.2:p.Leu140=
ENST00000446569.1:c.273T= (ALG3)
ENST00000455059.5:c.443T= (ALG3)	ENSP00000397613.1:p.Leu148=
ENST00000461415.5:n.536T= (ALG3)
ENST00000477959.1:n.103T= (ALG3)
ENST00000482048.1:n.552T= (ALG3)
ENST00000488976.5:n.448T= (ALG3)
NM_001006941.2:c.419T= (ALG3)	NP_001006942.1:p.Leu140=
NM_005787.5:c.563T= (ALG3)	NP_005778.1:p.Leu188=
NR_024533.1:n.494T= (ALG3)
NR_024534.1:n.557T= (ALG3)
XM_011512322.1:c.464T= (ALG3)	XP_011510624.1:p.Leu155=
XM_011512323.1:c.443T= (ALG3)	XP_011510625.1:p.Leu148=
XM_011512323.2:c.443T= (ALG3)	XP_011510625.1:p.Leu148=
XM_024453296.1:c.341T= (ALG3)	XP_024309064.1:p.Leu114=
NM_005787.6:c.563T= (ALG3) MANE Select	NP_005778.1:p.Leu188=