Canonical Allele Identifier: CA437327256

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963021C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245233C>T , CM000665.2:g.184245233C>T	GRCh38
NC_000003.11:g.183963021C>T , CM000665.1:g.183963021C>T	GRCh37
NC_000003.10:g.185445715C>T	NCBI36
NG_008924.2:g.9280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.570G>A (ALG3) MANE Select	ENSP00000380793.3:p.Leu190=
ENST00000397676.7:c.570G>A (ALG3)	ENSP00000380793.3:p.Leu190=
ENST00000411922.5:c.*146G>A (ALG3)	ENSP00000394917.1:n.*146G>A
ENST00000414845.5:c.337+235G>A (ALG3)
ENST00000423996.5:c.*335G>A (ALG3)	ENSP00000407011.1:n.*335G>A
ENST00000444495.1:c.2106+100526C>T (EIF2B5)	ENSP00000409142.1:n.2106+100526C>T
ENST00000445626.6:c.426G>A (ALG3)	ENSP00000402744.2:p.Leu142=
ENST00000446569.1:c.280G>A (ALG3)
ENST00000455059.5:c.450G>A (ALG3)	ENSP00000397613.1:p.Leu150=
ENST00000461415.5:n.543G>A (ALG3)
ENST00000477959.1:n.110G>A (ALG3)
ENST00000482048.1:n.559G>A (ALG3)
ENST00000488976.5:n.455G>A (ALG3)
NM_001006941.2:c.426G>A (ALG3)	NP_001006942.1:p.Leu142=
NM_005787.5:c.570G>A (ALG3)	NP_005778.1:p.Leu190=
NR_024533.1:n.501G>A (ALG3)
NR_024534.1:n.564G>A (ALG3)
XM_011512322.1:c.471G>A (ALG3)	XP_011510624.1:p.Leu157=
XM_011512323.1:c.450G>A (ALG3)	XP_011510625.1:p.Leu150=
XM_011512323.2:c.450G>A (ALG3)	XP_011510625.1:p.Leu150=
XM_024453296.1:c.348G>A (ALG3)	XP_024309064.1:p.Leu116=
NM_005787.6:c.570G>A (ALG3) MANE Select	NP_005778.1:p.Leu190=