Canonical Allele Identifier: CA355419249

Gene: ALG3 EIF2B5

Linked Data

• ClinVar Variation Id: 427137
• ClinVar RCV Id: RCV000489956 ; RCV001543413
• dbSNP Id: rs1085307980
• MyVariant Identifiers: chr3:g.183961759A>G (hg19) ; chr3:g.184243971A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184243971A>G , CM000665.2:g.184243971A>G	GRCh38
NC_000003.11:g.183961759A>G , CM000665.1:g.183961759A>G	GRCh37
NC_000003.10:g.185444453A>G	NCBI36
NG_008924.2:g.10542T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.752T>C (ALG3) MANE Select	ENSP00000380793.3:p.Leu251Pro
ENST00000397676.7:c.752T>C (ALG3)	ENSP00000380793.3:p.Leu251Pro
ENST00000411922.5:c.*328T>C (ALG3)	ENSP00000394917.1:n.*328T>C
ENST00000414845.5:c.484T>C (ALG3)
ENST00000423996.5:c.*517T>C (ALG3)	ENSP00000407011.1:n.*517T>C
ENST00000444495.1:c.2106+99264A>G (EIF2B5)	ENSP00000409142.1:n.2106+99264A>G
ENST00000445626.6:c.608T>C (ALG3)	ENSP00000402744.2:p.Leu203Pro
ENST00000446569.1:c.462T>C (ALG3)
ENST00000455059.5:c.632T>C (ALG3)	ENSP00000397613.1:p.Leu211Pro
ENST00000462735.6:n.447T>C (ALG3)
ENST00000463495.5:n.26T>C (ALG3)
NM_001006941.2:c.608T>C (ALG3)	NP_001006942.1:p.Leu203Pro
NM_005787.5:c.752T>C (ALG3)	NP_005778.1:p.Leu251Pro
NR_024533.1:n.683T>C (ALG3)
NR_024534.1:n.746T>C (ALG3)
XM_011512322.1:c.653T>C (ALG3)	XP_011510624.1:p.Leu218Pro
XM_011512323.1:c.632T>C (ALG3)	XP_011510625.1:p.Leu211Pro
XM_011512323.2:c.632T>C (ALG3)	XP_011510625.1:p.Leu211Pro
XM_024453296.1:c.530T>C (ALG3)	XP_024309064.1:p.Leu177Pro
NM_005787.6:c.752T>C (ALG3) MANE Select	NP_005778.1:p.Leu251Pro