Canonical Allele Identifier: CA355421348

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245315-C-G
• MyVariant Identifiers: chr3:g.183963103C>G (hg19) ; chr3:g.184245315C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245315C>G , CM000665.2:g.184245315C>G	GRCh38
NC_000003.11:g.183963103C>G , CM000665.1:g.183963103C>G	GRCh37
NC_000003.10:g.185445797C>G	NCBI36
NG_008924.2:g.9198G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.488G>C (ALG3) MANE Select	ENSP00000380793.3:p.Arg163Pro
ENST00000397676.7:c.488G>C (ALG3)	ENSP00000380793.3:p.Arg163Pro
ENST00000411922.5:c.*64G>C (ALG3)	ENSP00000394917.1:n.*64G>C
ENST00000414845.5:c.337+153G>C (ALG3)
ENST00000423996.5:c.*253G>C (ALG3)	ENSP00000407011.1:n.*253G>C
ENST00000444495.1:c.2106+100608C>G (EIF2B5)	ENSP00000409142.1:n.2106+100608C>G
ENST00000445626.6:c.344G>C (ALG3)	ENSP00000402744.2:p.Arg115Pro
ENST00000446569.1:c.198G>C (ALG3)
ENST00000455059.5:c.368G>C (ALG3)	ENSP00000397613.1:p.Arg123Pro
ENST00000461415.5:n.461G>C (ALG3)
ENST00000477959.1:n.28G>C (ALG3)
ENST00000482048.1:n.477G>C (ALG3)
ENST00000488976.5:n.373G>C (ALG3)
NM_001006941.2:c.344G>C (ALG3)	NP_001006942.1:p.Arg115Pro
NM_005787.5:c.488G>C (ALG3)	NP_005778.1:p.Arg163Pro
NR_024533.1:n.419G>C (ALG3)
NR_024534.1:n.482G>C (ALG3)
XM_011512322.1:c.389G>C (ALG3)	XP_011510624.1:p.Arg130Pro
XM_011512323.1:c.368G>C (ALG3)	XP_011510625.1:p.Arg123Pro
XM_011512323.2:c.368G>C (ALG3)	XP_011510625.1:p.Arg123Pro
XM_024453296.1:c.266G>C (ALG3)	XP_024309064.1:p.Arg89Pro
NM_005787.6:c.488G>C (ALG3) MANE Select	NP_005778.1:p.Arg163Pro