Canonical Allele Identifier: CA355421293

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963087A>T (hg19) ; chr3:g.184245299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245299A>T , CM000665.2:g.184245299A>T	GRCh38
NC_000003.11:g.183963087A>T , CM000665.1:g.183963087A>T	GRCh37
NC_000003.10:g.185445781A>T	NCBI36
NG_008924.2:g.9214T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.504T>A (ALG3) MANE Select	ENSP00000380793.3:p.Phe168Leu
ENST00000397676.7:c.504T>A (ALG3)	ENSP00000380793.3:p.Phe168Leu
ENST00000411922.5:c.*80T>A (ALG3)	ENSP00000394917.1:n.*80T>A
ENST00000414845.5:c.337+169T>A (ALG3)
ENST00000423996.5:c.*269T>A (ALG3)	ENSP00000407011.1:n.*269T>A
ENST00000444495.1:c.2106+100592A>T (EIF2B5)	ENSP00000409142.1:n.2106+100592A>T
ENST00000445626.6:c.360T>A (ALG3)	ENSP00000402744.2:p.Phe120Leu
ENST00000446569.1:c.214T>A (ALG3)
ENST00000455059.5:c.384T>A (ALG3)	ENSP00000397613.1:p.Phe128Leu
ENST00000461415.5:n.477T>A (ALG3)
ENST00000477959.1:n.44T>A (ALG3)
ENST00000482048.1:n.493T>A (ALG3)
ENST00000488976.5:n.389T>A (ALG3)
NM_001006941.2:c.360T>A (ALG3)	NP_001006942.1:p.Phe120Leu
NM_005787.5:c.504T>A (ALG3)	NP_005778.1:p.Phe168Leu
NR_024533.1:n.435T>A (ALG3)
NR_024534.1:n.498T>A (ALG3)
XM_011512322.1:c.405T>A (ALG3)	XP_011510624.1:p.Phe135Leu
XM_011512323.1:c.384T>A (ALG3)	XP_011510625.1:p.Phe128Leu
XM_011512323.2:c.384T>A (ALG3)	XP_011510625.1:p.Phe128Leu
XM_024453296.1:c.282T>A (ALG3)	XP_024309064.1:p.Phe94Leu
NM_005787.6:c.504T>A (ALG3) MANE Select	NP_005778.1:p.Phe168Leu