Canonical Allele Identifier: CA437327258

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963023G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245235G>A , CM000665.2:g.184245235G>A	GRCh38
NC_000003.11:g.183963023G>A , CM000665.1:g.183963023G>A	GRCh37
NC_000003.10:g.185445717G>A	NCBI36
NG_008924.2:g.9278C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.568C>T (ALG3) MANE Select	ENSP00000380793.3:p.Leu190=
ENST00000397676.7:c.568C>T (ALG3)	ENSP00000380793.3:p.Leu190=
ENST00000411922.5:c.*144C>T (ALG3)	ENSP00000394917.1:n.*144C>T
ENST00000414845.5:c.337+233C>T (ALG3)
ENST00000423996.5:c.*333C>T (ALG3)	ENSP00000407011.1:n.*333C>T
ENST00000444495.1:c.2106+100528G>A (EIF2B5)	ENSP00000409142.1:n.2106+100528G>A
ENST00000445626.6:c.424C>T (ALG3)	ENSP00000402744.2:p.Leu142=
ENST00000446569.1:c.278C>T (ALG3)
ENST00000455059.5:c.448C>T (ALG3)	ENSP00000397613.1:p.Leu150=
ENST00000461415.5:n.541C>T (ALG3)
ENST00000477959.1:n.108C>T (ALG3)
ENST00000482048.1:n.557C>T (ALG3)
ENST00000488976.5:n.453C>T (ALG3)
NM_001006941.2:c.424C>T (ALG3)	NP_001006942.1:p.Leu142=
NM_005787.5:c.568C>T (ALG3)	NP_005778.1:p.Leu190=
NR_024533.1:n.499C>T (ALG3)
NR_024534.1:n.562C>T (ALG3)
XM_011512322.1:c.469C>T (ALG3)	XP_011510624.1:p.Leu157=
XM_011512323.1:c.448C>T (ALG3)	XP_011510625.1:p.Leu150=
XM_011512323.2:c.448C>T (ALG3)	XP_011510625.1:p.Leu150=
XM_024453296.1:c.346C>T (ALG3)	XP_024309064.1:p.Leu116=
NM_005787.6:c.568C>T (ALG3) MANE Select	NP_005778.1:p.Leu190=