Canonical Allele Identifier: CA2729509

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs373395680
• ExAC: 3:183963062 C / G
• gnomAD v2: 3-183963062-C-G
• gnomAD v3: 3-184245274-C-G
• gnomAD v4: 3-184245274-C-G
• MyVariant Identifiers: chr3:g.183963062C>G (hg19) ; chr3:g.184245274C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245274C>G , CM000665.2:g.184245274C>G	GRCh38
NC_000003.11:g.183963062C>G , CM000665.1:g.183963062C>G	GRCh37
NC_000003.10:g.185445756C>G	NCBI36
NG_008924.2:g.9239G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.529G>C (ALG3) MANE Select	ENSP00000380793.3:p.Val177Leu
ENST00000397676.7:c.529G>C (ALG3)	ENSP00000380793.3:p.Val177Leu
ENST00000411922.5:c.*105G>C (ALG3)	ENSP00000394917.1:n.*105G>C
ENST00000414845.5:c.337+194G>C (ALG3)
ENST00000423996.5:c.*294G>C (ALG3)	ENSP00000407011.1:n.*294G>C
ENST00000444495.1:c.2106+100567C>G (EIF2B5)	ENSP00000409142.1:n.2106+100567C>G
ENST00000445626.6:c.385G>C (ALG3)	ENSP00000402744.2:p.Val129Leu
ENST00000446569.1:c.239G>C (ALG3)
ENST00000455059.5:c.409G>C (ALG3)	ENSP00000397613.1:p.Val137Leu
ENST00000461415.5:n.502G>C (ALG3)
ENST00000477959.1:n.69G>C (ALG3)
ENST00000482048.1:n.518G>C (ALG3)
ENST00000488976.5:n.414G>C (ALG3)
NM_001006941.2:c.385G>C (ALG3)	NP_001006942.1:p.Val129Leu
NM_005787.5:c.529G>C (ALG3)	NP_005778.1:p.Val177Leu
NR_024533.1:n.460G>C (ALG3)
NR_024534.1:n.523G>C (ALG3)
XM_011512322.1:c.430G>C (ALG3)	XP_011510624.1:p.Val144Leu
XM_011512323.1:c.409G>C (ALG3)	XP_011510625.1:p.Val137Leu
XM_011512323.2:c.409G>C (ALG3)	XP_011510625.1:p.Val137Leu
XM_024453296.1:c.307G>C (ALG3)	XP_024309064.1:p.Val103Leu
NM_005787.6:c.529G>C (ALG3) MANE Select	NP_005778.1:p.Val177Leu