Canonical Allele Identifier: CA355420985

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1230393795
• gnomAD v2: 3-183963010-C-G
• gnomAD v4: 3-184245222-C-G
• MyVariant Identifiers: chr3:g.183963010C>G (hg19) ; chr3:g.184245222C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245222C>G , CM000665.2:g.184245222C>G	GRCh38
NC_000003.11:g.183963010C>G , CM000665.1:g.183963010C>G	GRCh37
NC_000003.10:g.185445704C>G	NCBI36
NG_008924.2:g.9291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.581G>C (ALG3) MANE Select	ENSP00000380793.3:p.Trp194Ser
ENST00000397676.7:c.581G>C (ALG3)	ENSP00000380793.3:p.Trp194Ser
ENST00000411922.5:c.*157G>C (ALG3)	ENSP00000394917.1:n.*157G>C
ENST00000414845.5:c.337+246G>C (ALG3)
ENST00000423996.5:c.*346G>C (ALG3)	ENSP00000407011.1:n.*346G>C
ENST00000444495.1:c.2106+100515C>G (EIF2B5)	ENSP00000409142.1:n.2106+100515C>G
ENST00000445626.6:c.437G>C (ALG3)	ENSP00000402744.2:p.Trp146Ser
ENST00000446569.1:c.291G>C (ALG3)
ENST00000455059.5:c.461G>C (ALG3)	ENSP00000397613.1:p.Trp154Ser
ENST00000461415.5:n.554G>C (ALG3)
ENST00000477959.1:n.121G>C (ALG3)
ENST00000482048.1:n.570G>C (ALG3)
ENST00000488976.5:n.466G>C (ALG3)
NM_001006941.2:c.437G>C (ALG3)	NP_001006942.1:p.Trp146Ser
NM_005787.5:c.581G>C (ALG3)	NP_005778.1:p.Trp194Ser
NR_024533.1:n.512G>C (ALG3)
NR_024534.1:n.575G>C (ALG3)
XM_011512322.1:c.482G>C (ALG3)	XP_011510624.1:p.Trp161Ser
XM_011512323.1:c.461G>C (ALG3)	XP_011510625.1:p.Trp154Ser
XM_011512323.2:c.461G>C (ALG3)	XP_011510625.1:p.Trp154Ser
XM_024453296.1:c.359G>C (ALG3)	XP_024309064.1:p.Trp120Ser
NM_005787.6:c.581G>C (ALG3) MANE Select	NP_005778.1:p.Trp194Ser