Canonical Allele Identifier: CA88884136

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184248869C>T , CM000665.2:g.184248869C>T	GRCh38
NC_000003.11:g.183966657C>T , CM000665.1:g.183966657C>T	GRCh37
NC_000003.10:g.185449351C>T	NCBI36
NG_008924.2:g.5644G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.72G>A (ALG3) MANE Select	NP_005778.1:p.Trp24Ter
ENST00000397676.8:c.72G>A (ALG3) MANE Select	ENSP00000380793.3:p.Trp24Ter
NM_001006941.2:c.52+357G>A (ALG3)	NP_001006942.1:n.52+357G>A
NM_005787.5:c.72G>A (ALG3)	NP_005778.1:p.Trp24Ter
NR_024533.1:n.103G>A (ALG3)
NR_024534.1:n.103G>A (ALG3)
ENST00000397676.7:c.72G>A (ALG3)	ENSP00000380793.3:p.Trp24Ter
ENST00000411922.5:c.72G>A (ALG3)	ENSP00000394917.1:p.Trp24Ter
ENST00000414845.5:c.65G>A (ALG3)
ENST00000423996.5:c.72G>A (ALG3)	ENSP00000407011.1:p.Trp24Ter
ENST00000444495.1:c.2106+104162C>T (EIF2B5)	ENSP00000409142.1:n.2106+104162C>T
ENST00000445626.6:c.52+357G>A (ALG3)	ENSP00000402744.2:n.52+357G>A
ENST00000446569.1:c.67G>A (ALG3)
ENST00000455059.5:c.76+121G>A (ALG3)	ENSP00000397613.1:n.76+121G>A
ENST00000461415.5:n.82G>A (ALG3)
ENST00000482048.1:n.61G>A (ALG3)
ENST00000488976.5:n.94G>A (ALG3)
XM_011512323.1:c.76+121G>A (ALG3)	XP_011510625.1:n.76+121G>A
XM_011512323.2:c.76+121G>A (ALG3)	XP_011510625.1:n.76+121G>A
XM_024453296.1:c.-27+2873G>A (ALG3)	XP_024309064.1:n.-27+2873G>A