Canonical Allele Identifier: CA355421277

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245294-A-C
• MyVariant Identifiers: chr3:g.183963082A>C (hg19) ; chr3:g.184245294A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245294A>C , CM000665.2:g.184245294A>C	GRCh38
NC_000003.11:g.183963082A>C , CM000665.1:g.183963082A>C	GRCh37
NC_000003.10:g.185445776A>C	NCBI36
NG_008924.2:g.9219T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.509T>G (ALG3) MANE Select	ENSP00000380793.3:p.Leu170Arg
ENST00000397676.7:c.509T>G (ALG3)	ENSP00000380793.3:p.Leu170Arg
ENST00000411922.5:c.*85T>G (ALG3)	ENSP00000394917.1:n.*85T>G
ENST00000414845.5:c.337+174T>G (ALG3)
ENST00000423996.5:c.*274T>G (ALG3)	ENSP00000407011.1:n.*274T>G
ENST00000444495.1:c.2106+100587A>C (EIF2B5)	ENSP00000409142.1:n.2106+100587A>C
ENST00000445626.6:c.365T>G (ALG3)	ENSP00000402744.2:p.Leu122Arg
ENST00000446569.1:c.219T>G (ALG3)
ENST00000455059.5:c.389T>G (ALG3)	ENSP00000397613.1:p.Leu130Arg
ENST00000461415.5:n.482T>G (ALG3)
ENST00000477959.1:n.49T>G (ALG3)
ENST00000482048.1:n.498T>G (ALG3)
ENST00000488976.5:n.394T>G (ALG3)
NM_001006941.2:c.365T>G (ALG3)	NP_001006942.1:p.Leu122Arg
NM_005787.5:c.509T>G (ALG3)	NP_005778.1:p.Leu170Arg
NR_024533.1:n.440T>G (ALG3)
NR_024534.1:n.503T>G (ALG3)
XM_011512322.1:c.410T>G (ALG3)	XP_011510624.1:p.Leu137Arg
XM_011512323.1:c.389T>G (ALG3)	XP_011510625.1:p.Leu130Arg
XM_011512323.2:c.389T>G (ALG3)	XP_011510625.1:p.Leu130Arg
XM_024453296.1:c.287T>G (ALG3)	XP_024309064.1:p.Leu96Arg
NM_005787.6:c.509T>G (ALG3) MANE Select	NP_005778.1:p.Leu170Arg