Canonical Allele Identifier: CA252104

Gene: ALG3 EIF2B5

Linked Data

• ClinVar Variation Id: 2127
• ClinVar RCV Id: RCV000002209
• dbSNP Id: rs28940588
• COSMIC: COSM4794078 ; COSM4794079
• MyVariant Identifiers: chr3:g.183963347C>T (hg19) ; chr3:g.184245559C>T (hg38)
• PubMed: PMID:8552211 ; PMID:10581255

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245559C>T , CM000665.2:g.184245559C>T	GRCh38
NC_000003.11:g.183963347C>T , CM000665.1:g.183963347C>T	GRCh37
NC_000003.10:g.185446041C>T	NCBI36
NG_008924.2:g.8954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.353G>A (ALG3) MANE Select	ENSP00000380793.3:p.Gly118Asp
ENST00000397676.7:c.353G>A (ALG3)	ENSP00000380793.3:p.Gly118Asp
ENST00000411922.5:c.253G>A (ALG3)	ENSP00000394917.1:p.Ala85Thr
ENST00000414845.5:c.246G>A (ALG3)
ENST00000423996.5:c.*118G>A (ALG3)	ENSP00000407011.1:n.*118G>A
ENST00000444495.1:c.2106+100852C>T (EIF2B5)	ENSP00000409142.1:n.2106+100852C>T
ENST00000445626.6:c.209G>A (ALG3)	ENSP00000402744.2:p.Gly70Asp
ENST00000446569.1:c.155-201G>A (ALG3)
ENST00000455059.5:c.233G>A (ALG3)	ENSP00000397613.1:p.Gly78Asp
ENST00000461415.5:n.326G>A (ALG3)
ENST00000482048.1:n.342G>A (ALG3)
ENST00000488976.5:n.238G>A (ALG3)
NM_001006941.2:c.209G>A (ALG3)	NP_001006942.1:p.Gly70Asp
NM_005787.5:c.353G>A (ALG3)	NP_005778.1:p.Gly118Asp
NR_024533.1:n.284G>A (ALG3)
NR_024534.1:n.347G>A (ALG3)
XM_011512322.1:c.254G>A (ALG3)	XP_011510624.1:p.Gly85Asp
XM_011512323.1:c.233G>A (ALG3)	XP_011510625.1:p.Gly78Asp
XM_011512323.2:c.233G>A (ALG3)	XP_011510625.1:p.Gly78Asp
XM_024453296.1:c.131G>A (ALG3)	XP_024309064.1:p.Gly44Asp
NM_005787.6:c.353G>A (ALG3) MANE Select	NP_005778.1:p.Gly118Asp