Canonical Allele Identifier: CA437327413

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1220378267
• gnomAD v2: 3-183963355-G-T
• gnomAD v4: 3-184245567-G-T
• COSMIC: COSM6261174 ; COSM6261175
• MyVariant Identifiers: chr3:g.183963355G>T (hg19) ; chr3:g.184245567G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245567G>T , CM000665.2:g.184245567G>T	GRCh38
NC_000003.11:g.183963355G>T , CM000665.1:g.183963355G>T	GRCh37
NC_000003.10:g.185446049G>T	NCBI36
NG_008924.2:g.8946C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.345C>A (ALG3) MANE Select	ENSP00000380793.3:p.Thr115=
ENST00000397676.7:c.345C>A (ALG3)	ENSP00000380793.3:p.Thr115=
ENST00000411922.5:c.245C>A (ALG3)	ENSP00000394917.1:p.Pro82Gln
ENST00000414845.5:c.238C>A (ALG3)
ENST00000423996.5:c.*110C>A (ALG3)	ENSP00000407011.1:n.*110C>A
ENST00000444495.1:c.2106+100860G>T (EIF2B5)	ENSP00000409142.1:n.2106+100860G>T
ENST00000445626.6:c.201C>A (ALG3)	ENSP00000402744.2:p.Thr67=
ENST00000446569.1:c.155-209C>A (ALG3)
ENST00000455059.5:c.225C>A (ALG3)	ENSP00000397613.1:p.Thr75=
ENST00000461415.5:n.318C>A (ALG3)
ENST00000482048.1:n.334C>A (ALG3)
ENST00000488976.5:n.230C>A (ALG3)
NM_001006941.2:c.201C>A (ALG3)	NP_001006942.1:p.Thr67=
NM_005787.5:c.345C>A (ALG3)	NP_005778.1:p.Thr115=
NR_024533.1:n.276C>A (ALG3)
NR_024534.1:n.339C>A (ALG3)
XM_011512322.1:c.246C>A (ALG3)	XP_011510624.1:p.Thr82=
XM_011512323.1:c.225C>A (ALG3)	XP_011510625.1:p.Thr75=
XM_011512323.2:c.225C>A (ALG3)	XP_011510625.1:p.Thr75=
XM_024453296.1:c.123C>A (ALG3)	XP_024309064.1:p.Thr41=
NM_005787.6:c.345C>A (ALG3) MANE Select	NP_005778.1:p.Thr115=