Canonical Allele Identifier: CA88880109

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245788T>C , CM000665.2:g.184245788T>C	GRCh38
NC_000003.11:g.183963576T>C , CM000665.1:g.183963576T>C	GRCh37
NC_000003.10:g.185446270T>C	NCBI36
NG_008924.2:g.8725A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.221A>G (ALG3) MANE Select	NP_005778.1:p.Tyr74Cys
ENST00000397676.8:c.221A>G (ALG3) MANE Select	ENSP00000380793.3:p.Tyr74Cys
NM_001006941.2:c.77A>G (ALG3)	NP_001006942.1:p.Tyr26Cys
NM_005787.5:c.221A>G (ALG3)	NP_005778.1:p.Tyr74Cys
NR_024533.1:n.228-173A>G (ALG3)
NR_024534.1:n.215A>G (ALG3)
ENST00000397676.7:c.221A>G (ALG3)	ENSP00000380793.3:p.Tyr74Cys
ENST00000411922.5:c.197-173A>G (ALG3)	ENSP00000394917.1:n.197-173A>G
ENST00000414845.5:c.190-173A>G (ALG3)
ENST00000423996.5:c.184A>G (ALG3)	ENSP00000407011.1:p.Thr62Ala
ENST00000444495.1:c.2106+101081T>C (EIF2B5)	ENSP00000409142.1:n.2106+101081T>C
ENST00000445626.6:c.77A>G (ALG3)	ENSP00000402744.2:p.Tyr26Cys
ENST00000446569.1:c.155-430A>G (ALG3)
ENST00000455059.5:c.101A>G (ALG3)	ENSP00000397613.1:p.Tyr34Cys
ENST00000461415.5:n.194A>G (ALG3)
ENST00000482048.1:n.210A>G (ALG3)
ENST00000488976.5:n.182-173A>G (ALG3)
XM_011512322.1:c.122A>G (ALG3)	XP_011510624.1:p.Tyr41Cys
XM_011512323.1:c.101A>G (ALG3)	XP_011510625.1:p.Tyr34Cys
XM_011512323.2:c.101A>G (ALG3)	XP_011510625.1:p.Tyr34Cys
XM_024453296.1:c.-2A>G (ALG3)	XP_024309064.1:n.-2A>G