Canonical Allele Identifier: CA355421362

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963107A>G (hg19) ; chr3:g.184245319A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245319A>G , CM000665.2:g.184245319A>G	GRCh38
NC_000003.11:g.183963107A>G , CM000665.1:g.183963107A>G	GRCh37
NC_000003.10:g.185445801A>G	NCBI36
NG_008924.2:g.9194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.484T>C (ALG3) MANE Select	ENSP00000380793.3:p.Tyr162His
ENST00000397676.7:c.484T>C (ALG3)	ENSP00000380793.3:p.Tyr162His
ENST00000411922.5:c.*60T>C (ALG3)	ENSP00000394917.1:n.*60T>C
ENST00000414845.5:c.337+149T>C (ALG3)
ENST00000423996.5:c.*249T>C (ALG3)	ENSP00000407011.1:n.*249T>C
ENST00000444495.1:c.2106+100612A>G (EIF2B5)	ENSP00000409142.1:n.2106+100612A>G
ENST00000445626.6:c.340T>C (ALG3)	ENSP00000402744.2:p.Tyr114His
ENST00000446569.1:c.194T>C (ALG3)
ENST00000455059.5:c.364T>C (ALG3)	ENSP00000397613.1:p.Tyr122His
ENST00000461415.5:n.457T>C (ALG3)
ENST00000477959.1:n.24T>C (ALG3)
ENST00000482048.1:n.473T>C (ALG3)
ENST00000488976.5:n.369T>C (ALG3)
NM_001006941.2:c.340T>C (ALG3)	NP_001006942.1:p.Tyr114His
NM_005787.5:c.484T>C (ALG3)	NP_005778.1:p.Tyr162His
NR_024533.1:n.415T>C (ALG3)
NR_024534.1:n.478T>C (ALG3)
XM_011512322.1:c.385T>C (ALG3)	XP_011510624.1:p.Tyr129His
XM_011512323.1:c.364T>C (ALG3)	XP_011510625.1:p.Tyr122His
XM_011512323.2:c.364T>C (ALG3)	XP_011510625.1:p.Tyr122His
XM_024453296.1:c.262T>C (ALG3)	XP_024309064.1:p.Tyr88His
NM_005787.6:c.484T>C (ALG3) MANE Select	NP_005778.1:p.Tyr162His