Canonical Allele Identifier: CA355421097

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963029G>T (hg19) ; chr3:g.184245241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245241G>T , CM000665.2:g.184245241G>T	GRCh38
NC_000003.11:g.183963029G>T , CM000665.1:g.183963029G>T	GRCh37
NC_000003.10:g.185445723G>T	NCBI36
NG_008924.2:g.9272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.562C>A (ALG3) MANE Select	ENSP00000380793.3:p.Leu188Ile
ENST00000397676.7:c.562C>A (ALG3)	ENSP00000380793.3:p.Leu188Ile
ENST00000411922.5:c.*138C>A (ALG3)	ENSP00000394917.1:n.*138C>A
ENST00000414845.5:c.337+227C>A (ALG3)
ENST00000423996.5:c.*327C>A (ALG3)	ENSP00000407011.1:n.*327C>A
ENST00000444495.1:c.2106+100534G>T (EIF2B5)	ENSP00000409142.1:n.2106+100534G>T
ENST00000445626.6:c.418C>A (ALG3)	ENSP00000402744.2:p.Leu140Ile
ENST00000446569.1:c.272C>A (ALG3)
ENST00000455059.5:c.442C>A (ALG3)	ENSP00000397613.1:p.Leu148Ile
ENST00000461415.5:n.535C>A (ALG3)
ENST00000477959.1:n.102C>A (ALG3)
ENST00000482048.1:n.551C>A (ALG3)
ENST00000488976.5:n.447C>A (ALG3)
NM_001006941.2:c.418C>A (ALG3)	NP_001006942.1:p.Leu140Ile
NM_005787.5:c.562C>A (ALG3)	NP_005778.1:p.Leu188Ile
NR_024533.1:n.493C>A (ALG3)
NR_024534.1:n.556C>A (ALG3)
XM_011512322.1:c.463C>A (ALG3)	XP_011510624.1:p.Leu155Ile
XM_011512323.1:c.442C>A (ALG3)	XP_011510625.1:p.Leu148Ile
XM_011512323.2:c.442C>A (ALG3)	XP_011510625.1:p.Leu148Ile
XM_024453296.1:c.340C>A (ALG3)	XP_024309064.1:p.Leu114Ile
NM_005787.6:c.562C>A (ALG3) MANE Select	NP_005778.1:p.Leu188Ile