Canonical Allele Identifier: CA355421131

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245249-C-T
• MyVariant Identifiers: chr3:g.183963037C>T (hg19) ; chr3:g.184245249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245249C>T , CM000665.2:g.184245249C>T	GRCh38
NC_000003.11:g.183963037C>T , CM000665.1:g.183963037C>T	GRCh37
NC_000003.10:g.185445731C>T	NCBI36
NG_008924.2:g.9264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.554G>A (ALG3) MANE Select	ENSP00000380793.3:p.Ser185Asn
ENST00000397676.7:c.554G>A (ALG3)	ENSP00000380793.3:p.Ser185Asn
ENST00000411922.5:c.*130G>A (ALG3)	ENSP00000394917.1:n.*130G>A
ENST00000414845.5:c.337+219G>A (ALG3)
ENST00000423996.5:c.*319G>A (ALG3)	ENSP00000407011.1:n.*319G>A
ENST00000444495.1:c.2106+100542C>T (EIF2B5)	ENSP00000409142.1:n.2106+100542C>T
ENST00000445626.6:c.410G>A (ALG3)	ENSP00000402744.2:p.Ser137Asn
ENST00000446569.1:c.264G>A (ALG3)
ENST00000455059.5:c.434G>A (ALG3)	ENSP00000397613.1:p.Ser145Asn
ENST00000461415.5:n.527G>A (ALG3)
ENST00000477959.1:n.94G>A (ALG3)
ENST00000482048.1:n.543G>A (ALG3)
ENST00000488976.5:n.439G>A (ALG3)
NM_001006941.2:c.410G>A (ALG3)	NP_001006942.1:p.Ser137Asn
NM_005787.5:c.554G>A (ALG3)	NP_005778.1:p.Ser185Asn
NR_024533.1:n.485G>A (ALG3)
NR_024534.1:n.548G>A (ALG3)
XM_011512322.1:c.455G>A (ALG3)	XP_011510624.1:p.Ser152Asn
XM_011512323.1:c.434G>A (ALG3)	XP_011510625.1:p.Ser145Asn
XM_011512323.2:c.434G>A (ALG3)	XP_011510625.1:p.Ser145Asn
XM_024453296.1:c.332G>A (ALG3)	XP_024309064.1:p.Ser111Asn
NM_005787.6:c.554G>A (ALG3) MANE Select	NP_005778.1:p.Ser185Asn