Canonical Allele Identifier: CA2729464

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs749641979
• ExAC: 3:183962509 G / C
• gnomAD v2: 3-183962509-G-C
• gnomAD v3: 3-184244721-G-C
• gnomAD v4: 3-184244721-G-C
• MyVariant Identifiers: chr3:g.183962509G>C (hg19) ; chr3:g.184244721G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184244721G>C , CM000665.2:g.184244721G>C	GRCh38
NC_000003.11:g.183962509G>C , CM000665.1:g.183962509G>C	GRCh37
NC_000003.10:g.185445203G>C	NCBI36
NG_008924.2:g.9792C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.606C>G (ALG3) MANE Select	ENSP00000380793.3:p.Ser202Arg
ENST00000397676.7:c.606C>G (ALG3)	ENSP00000380793.3:p.Ser202Arg
ENST00000411922.5:c.*182C>G (ALG3)	ENSP00000394917.1:n.*182C>G
ENST00000414845.5:c.338C>G (ALG3)
ENST00000423996.5:c.*371C>G (ALG3)	ENSP00000407011.1:n.*371C>G
ENST00000444495.1:c.2106+100014G>C (EIF2B5)	ENSP00000409142.1:n.2106+100014G>C
ENST00000445626.6:c.462C>G (ALG3)	ENSP00000402744.2:p.Ser154Arg
ENST00000446569.1:c.316C>G (ALG3)
ENST00000455059.5:c.486C>G (ALG3)	ENSP00000397613.1:p.Ser162Arg
ENST00000462735.6:n.301C>G (ALG3)
ENST00000477959.1:n.146C>G (ALG3)
NM_001006941.2:c.462C>G (ALG3)	NP_001006942.1:p.Ser154Arg
NM_005787.5:c.606C>G (ALG3)	NP_005778.1:p.Ser202Arg
NR_024533.1:n.537C>G (ALG3)
NR_024534.1:n.600C>G (ALG3)
XM_011512322.1:c.507C>G (ALG3)	XP_011510624.1:p.Ser169Arg
XM_011512323.1:c.486C>G (ALG3)	XP_011510625.1:p.Ser162Arg
XM_011512323.2:c.486C>G (ALG3)	XP_011510625.1:p.Ser162Arg
XM_024453296.1:c.384C>G (ALG3)	XP_024309064.1:p.Ser128Arg
NM_005787.6:c.606C>G (ALG3) MANE Select	NP_005778.1:p.Ser202Arg