Canonical Allele Identifier: CA355420823

Gene: ALG3 EIF2B5

Linked Data

• ClinVar Variation Id: 445677
• ClinVar RCV Id: RCV000513826
• dbSNP Id: rs1553828635
• MyVariant Identifiers: chr3:g.183962987T>G (hg19) ; chr3:g.184245199T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245199T>G , CM000665.2:g.184245199T>G	GRCh38
NC_000003.11:g.183962987T>G , CM000665.1:g.183962987T>G	GRCh37
NC_000003.10:g.185445681T>G	NCBI36
NG_008924.2:g.9314A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.604A>C (ALG3) MANE Select	ENSP00000380793.3:p.Ser202Arg
ENST00000397676.7:c.604A>C (ALG3)	ENSP00000380793.3:p.Ser202Arg
ENST00000411922.5:c.*180A>C (ALG3)	ENSP00000394917.1:n.*180A>C
ENST00000414845.5:c.337+269A>C (ALG3)
ENST00000423996.5:c.*369A>C (ALG3)	ENSP00000407011.1:n.*369A>C
ENST00000444495.1:c.2106+100492T>G (EIF2B5)	ENSP00000409142.1:n.2106+100492T>G
ENST00000445626.6:c.460A>C (ALG3)	ENSP00000402744.2:p.Ser154Arg
ENST00000446569.1:c.314A>C (ALG3)
ENST00000455059.5:c.484A>C (ALG3)	ENSP00000397613.1:p.Ser162Arg
ENST00000461415.5:n.577A>C (ALG3)
ENST00000477959.1:n.144A>C (ALG3)
ENST00000482048.1:n.593A>C (ALG3)
ENST00000488976.5:n.489A>C (ALG3)
NM_001006941.2:c.460A>C (ALG3)	NP_001006942.1:p.Ser154Arg
NM_005787.5:c.604A>C (ALG3)	NP_005778.1:p.Ser202Arg
NR_024533.1:n.535A>C (ALG3)
NR_024534.1:n.598A>C (ALG3)
XM_011512322.1:c.505A>C (ALG3)	XP_011510624.1:p.Ser169Arg
XM_011512323.1:c.484A>C (ALG3)	XP_011510625.1:p.Ser162Arg
XM_011512323.2:c.484A>C (ALG3)	XP_011510625.1:p.Ser162Arg
XM_024453296.1:c.382A>C (ALG3)	XP_024309064.1:p.Ser128Arg
NM_005787.6:c.604A>C (ALG3) MANE Select	NP_005778.1:p.Ser202Arg