Canonical Allele Identifier: CA2729497

Gene: ALG3 EIF2B5

Linked Data

• ClinVar Variation Id: 344356
• ClinVar RCV Id: RCV000348072 ; RCV001753809
• dbSNP Id: rs550144109
• ExAC: 3:183963013 C / T
• gnomAD v2: 3-183963013-C-T
• gnomAD v3: 3-184245225-C-T
• gnomAD v4: 3-184245225-C-T
• MyVariant Identifiers: chr3:g.183963013C>T (hg19) ; chr3:g.184245225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245225C>T , CM000665.2:g.184245225C>T	GRCh38
NC_000003.11:g.183963013C>T , CM000665.1:g.183963013C>T	GRCh37
NC_000003.10:g.185445707C>T	NCBI36
NG_008924.2:g.9288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.578G>A (ALG3) MANE Select	ENSP00000380793.3:p.Arg193His
ENST00000397676.7:c.578G>A (ALG3)	ENSP00000380793.3:p.Arg193His
ENST00000411922.5:c.*154G>A (ALG3)	ENSP00000394917.1:n.*154G>A
ENST00000414845.5:c.337+243G>A (ALG3)
ENST00000423996.5:c.*343G>A (ALG3)	ENSP00000407011.1:n.*343G>A
ENST00000444495.1:c.2106+100518C>T (EIF2B5)	ENSP00000409142.1:n.2106+100518C>T
ENST00000445626.6:c.434G>A (ALG3)	ENSP00000402744.2:p.Arg145His
ENST00000446569.1:c.288G>A (ALG3)
ENST00000455059.5:c.458G>A (ALG3)	ENSP00000397613.1:p.Arg153His
ENST00000461415.5:n.551G>A (ALG3)
ENST00000477959.1:n.118G>A (ALG3)
ENST00000482048.1:n.567G>A (ALG3)
ENST00000488976.5:n.463G>A (ALG3)
NM_001006941.2:c.434G>A (ALG3)	NP_001006942.1:p.Arg145His
NM_005787.5:c.578G>A (ALG3)	NP_005778.1:p.Arg193His
NR_024533.1:n.509G>A (ALG3)
NR_024534.1:n.572G>A (ALG3)
XM_011512322.1:c.479G>A (ALG3)	XP_011510624.1:p.Arg160His
XM_011512323.1:c.458G>A (ALG3)	XP_011510625.1:p.Arg153His
XM_011512323.2:c.458G>A (ALG3)	XP_011510625.1:p.Arg153His
XM_024453296.1:c.356G>A (ALG3)	XP_024309064.1:p.Arg119His
NM_005787.6:c.578G>A (ALG3) MANE Select	NP_005778.1:p.Arg193His