Canonical Allele Identifier: CA355418217

Gene: ALG3 EIF2B5

Linked Data

• ClinVar Variation Id: 521583
• ClinVar RCV Id: RCV000624784 ; RCV001543407
• dbSNP Id: rs1553827968
• MyVariant Identifiers: chr3:g.183961360G>A (hg19) ; chr3:g.184243572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184243572G>A , CM000665.2:g.184243572G>A	GRCh38
NC_000003.11:g.183961360G>A , CM000665.1:g.183961360G>A	GRCh37
NC_000003.10:g.185444054G>A	NCBI36
NG_008924.2:g.10941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.991C>T (ALG3) MANE Select	ENSP00000380793.3:p.Gln331Ter
ENST00000397676.7:c.991C>T (ALG3)	ENSP00000380793.3:p.Gln331Ter
ENST00000411922.5:c.*567C>T (ALG3)	ENSP00000394917.1:n.*567C>T
ENST00000414845.5:c.723C>T (ALG3)
ENST00000444495.1:c.2106+98865G>A (EIF2B5)	ENSP00000409142.1:n.2106+98865G>A
ENST00000445626.6:c.847C>T (ALG3)	ENSP00000402744.2:p.Gln283Ter
ENST00000446569.1:c.701C>T (ALG3)
ENST00000455059.5:c.871C>T (ALG3)	ENSP00000397613.1:p.Gln291Ter
ENST00000462735.6:n.686C>T (ALG3)
ENST00000463495.5:n.265C>T (ALG3)
ENST00000485912.1:n.18C>T (ALG3)
NM_001006941.2:c.847C>T (ALG3)	NP_001006942.1:p.Gln283Ter
NM_005787.5:c.991C>T (ALG3)	NP_005778.1:p.Gln331Ter
NR_024533.1:n.922C>T (ALG3)
NR_024534.1:n.985C>T (ALG3)
XM_011512322.1:c.892C>T (ALG3)	XP_011510624.1:p.Gln298Ter
XM_011512323.1:c.871C>T (ALG3)	XP_011510625.1:p.Gln291Ter
XM_011512323.2:c.871C>T (ALG3)	XP_011510625.1:p.Gln291Ter
XM_024453296.1:c.769C>T (ALG3)	XP_024309064.1:p.Gln257Ter
NM_005787.6:c.991C>T (ALG3) MANE Select	NP_005778.1:p.Gln331Ter