Canonical Allele Identifier: CA2729503

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs772527283
• ExAC: 3:183963038 T / G
• gnomAD v2: 3-183963038-T-G
• gnomAD v4: 3-184245250-T-G
• MyVariant Identifiers: chr3:g.183963038T>G (hg19) ; chr3:g.184245250T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245250T>G , CM000665.2:g.184245250T>G	GRCh38
NC_000003.11:g.183963038T>G , CM000665.1:g.183963038T>G	GRCh37
NC_000003.10:g.185445732T>G	NCBI36
NG_008924.2:g.9263A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.553A>C (ALG3) MANE Select	ENSP00000380793.3:p.Ser185Arg
ENST00000397676.7:c.553A>C (ALG3)	ENSP00000380793.3:p.Ser185Arg
ENST00000411922.5:c.*129A>C (ALG3)	ENSP00000394917.1:n.*129A>C
ENST00000414845.5:c.337+218A>C (ALG3)
ENST00000423996.5:c.*318A>C (ALG3)	ENSP00000407011.1:n.*318A>C
ENST00000444495.1:c.2106+100543T>G (EIF2B5)	ENSP00000409142.1:n.2106+100543T>G
ENST00000445626.6:c.409A>C (ALG3)	ENSP00000402744.2:p.Ser137Arg
ENST00000446569.1:c.263A>C (ALG3)
ENST00000455059.5:c.433A>C (ALG3)	ENSP00000397613.1:p.Ser145Arg
ENST00000461415.5:n.526A>C (ALG3)
ENST00000477959.1:n.93A>C (ALG3)
ENST00000482048.1:n.542A>C (ALG3)
ENST00000488976.5:n.438A>C (ALG3)
NM_001006941.2:c.409A>C (ALG3)	NP_001006942.1:p.Ser137Arg
NM_005787.5:c.553A>C (ALG3)	NP_005778.1:p.Ser185Arg
NR_024533.1:n.484A>C (ALG3)
NR_024534.1:n.547A>C (ALG3)
XM_011512322.1:c.454A>C (ALG3)	XP_011510624.1:p.Ser152Arg
XM_011512323.1:c.433A>C (ALG3)	XP_011510625.1:p.Ser145Arg
XM_011512323.2:c.433A>C (ALG3)	XP_011510625.1:p.Ser145Arg
XM_024453296.1:c.331A>C (ALG3)	XP_024309064.1:p.Ser111Arg
NM_005787.6:c.553A>C (ALG3) MANE Select	NP_005778.1:p.Ser185Arg