Canonical Allele Identifier: CA355421705

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963318A>T (hg19) ; chr3:g.184245530A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245530A>T , CM000665.2:g.184245530A>T	GRCh38
NC_000003.11:g.183963318A>T , CM000665.1:g.183963318A>T	GRCh37
NC_000003.10:g.185446012A>T	NCBI36
NG_008924.2:g.8983T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.382T>A (ALG3) MANE Select	ENSP00000380793.3:p.Phe128Ile
ENST00000397676.7:c.382T>A (ALG3)	ENSP00000380793.3:p.Phe128Ile
ENST00000411922.5:c.282T>A (ALG3)	ENSP00000394917.1:p.Ser94=
ENST00000414845.5:c.275T>A (ALG3)
ENST00000423996.5:c.*147T>A (ALG3)	ENSP00000407011.1:n.*147T>A
ENST00000444495.1:c.2106+100823A>T (EIF2B5)	ENSP00000409142.1:n.2106+100823A>T
ENST00000445626.6:c.238T>A (ALG3)	ENSP00000402744.2:p.Phe80Ile
ENST00000446569.1:c.155-172T>A (ALG3)
ENST00000455059.5:c.262T>A (ALG3)	ENSP00000397613.1:p.Phe88Ile
ENST00000461415.5:n.355T>A (ALG3)
ENST00000482048.1:n.371T>A (ALG3)
ENST00000488976.5:n.267T>A (ALG3)
NM_001006941.2:c.238T>A (ALG3)	NP_001006942.1:p.Phe80Ile
NM_005787.5:c.382T>A (ALG3)	NP_005778.1:p.Phe128Ile
NR_024533.1:n.313T>A (ALG3)
NR_024534.1:n.376T>A (ALG3)
XM_011512322.1:c.283T>A (ALG3)	XP_011510624.1:p.Phe95Ile
XM_011512323.1:c.262T>A (ALG3)	XP_011510625.1:p.Phe88Ile
XM_011512323.2:c.262T>A (ALG3)	XP_011510625.1:p.Phe88Ile
XM_024453296.1:c.160T>A (ALG3)	XP_024309064.1:p.Phe54Ile
NM_005787.6:c.382T>A (ALG3) MANE Select	NP_005778.1:p.Phe128Ile