Canonical Allele Identifier: CA355420946

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963005A>T (hg19) ; chr3:g.184245217A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245217A>T , CM000665.2:g.184245217A>T	GRCh38
NC_000003.11:g.183963005A>T , CM000665.1:g.183963005A>T	GRCh37
NC_000003.10:g.185445699A>T	NCBI36
NG_008924.2:g.9296T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.586T>A (ALG3) MANE Select	ENSP00000380793.3:p.Trp196Arg
ENST00000397676.7:c.586T>A (ALG3)	ENSP00000380793.3:p.Trp196Arg
ENST00000411922.5:c.*162T>A (ALG3)	ENSP00000394917.1:n.*162T>A
ENST00000414845.5:c.337+251T>A (ALG3)
ENST00000423996.5:c.*351T>A (ALG3)	ENSP00000407011.1:n.*351T>A
ENST00000444495.1:c.2106+100510A>T (EIF2B5)	ENSP00000409142.1:n.2106+100510A>T
ENST00000445626.6:c.442T>A (ALG3)	ENSP00000402744.2:p.Trp148Arg
ENST00000446569.1:c.296T>A (ALG3)
ENST00000455059.5:c.466T>A (ALG3)	ENSP00000397613.1:p.Trp156Arg
ENST00000461415.5:n.559T>A (ALG3)
ENST00000477959.1:n.126T>A (ALG3)
ENST00000482048.1:n.575T>A (ALG3)
ENST00000488976.5:n.471T>A (ALG3)
NM_001006941.2:c.442T>A (ALG3)	NP_001006942.1:p.Trp148Arg
NM_005787.5:c.586T>A (ALG3)	NP_005778.1:p.Trp196Arg
NR_024533.1:n.517T>A (ALG3)
NR_024534.1:n.580T>A (ALG3)
XM_011512322.1:c.487T>A (ALG3)	XP_011510624.1:p.Trp163Arg
XM_011512323.1:c.466T>A (ALG3)	XP_011510625.1:p.Trp156Arg
XM_011512323.2:c.466T>A (ALG3)	XP_011510625.1:p.Trp156Arg
XM_024453296.1:c.364T>A (ALG3)	XP_024309064.1:p.Trp122Arg
NM_005787.6:c.586T>A (ALG3) MANE Select	NP_005778.1:p.Trp196Arg