Canonical Allele Identifier: CA355421460

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963146C>A (hg19) ; chr3:g.184245358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245358C>A , CM000665.2:g.184245358C>A	GRCh38
NC_000003.11:g.183963146C>A , CM000665.1:g.183963146C>A	GRCh37
NC_000003.10:g.185445840C>A	NCBI36
NG_008924.2:g.9155G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.445G>T (ALG3) MANE Select	ENSP00000380793.3:p.Val149Leu
ENST00000397676.7:c.445G>T (ALG3)	ENSP00000380793.3:p.Val149Leu
ENST00000411922.5:c.*21G>T (ALG3)	ENSP00000394917.1:n.*21G>T
ENST00000414845.5:c.337+110G>T (ALG3)
ENST00000423996.5:c.*210G>T (ALG3)	ENSP00000407011.1:n.*210G>T
ENST00000444495.1:c.2106+100651C>A (EIF2B5)	ENSP00000409142.1:n.2106+100651C>A
ENST00000445626.6:c.301G>T (ALG3)	ENSP00000402744.2:p.Val101Leu
ENST00000446569.1:c.155G>T (ALG3)
ENST00000455059.5:c.325G>T (ALG3)	ENSP00000397613.1:p.Val109Leu
ENST00000461415.5:n.418G>T (ALG3)
ENST00000482048.1:n.434G>T (ALG3)
ENST00000488976.5:n.330G>T (ALG3)
NM_001006941.2:c.301G>T (ALG3)	NP_001006942.1:p.Val101Leu
NM_005787.5:c.445G>T (ALG3)	NP_005778.1:p.Val149Leu
NR_024533.1:n.376G>T (ALG3)
NR_024534.1:n.439G>T (ALG3)
XM_011512322.1:c.346G>T (ALG3)	XP_011510624.1:p.Val116Leu
XM_011512323.1:c.325G>T (ALG3)	XP_011510625.1:p.Val109Leu
XM_011512323.2:c.325G>T (ALG3)	XP_011510625.1:p.Val109Leu
XM_024453296.1:c.223G>T (ALG3)	XP_024309064.1:p.Val75Leu
NM_005787.6:c.445G>T (ALG3) MANE Select	NP_005778.1:p.Val149Leu