Canonical Allele Identifier: CA2729508

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs747690358
• ExAC: 3:183963053 C / T
• gnomAD v2: 3-183963053-C-T
• gnomAD v4: 3-184245265-C-T
• MyVariant Identifiers: chr3:g.183963053C>T (hg19) ; chr3:g.184245265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245265C>T , CM000665.2:g.184245265C>T	GRCh38
NC_000003.11:g.183963053C>T , CM000665.1:g.183963053C>T	GRCh37
NC_000003.10:g.185445747C>T	NCBI36
NG_008924.2:g.9248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.538G>A (ALG3) MANE Select	ENSP00000380793.3:p.Val180Met
ENST00000397676.7:c.538G>A (ALG3)	ENSP00000380793.3:p.Val180Met
ENST00000411922.5:c.*114G>A (ALG3)	ENSP00000394917.1:n.*114G>A
ENST00000414845.5:c.337+203G>A (ALG3)
ENST00000423996.5:c.*303G>A (ALG3)	ENSP00000407011.1:n.*303G>A
ENST00000444495.1:c.2106+100558C>T (EIF2B5)	ENSP00000409142.1:n.2106+100558C>T
ENST00000445626.6:c.394G>A (ALG3)	ENSP00000402744.2:p.Val132Met
ENST00000446569.1:c.248G>A (ALG3)
ENST00000455059.5:c.418G>A (ALG3)	ENSP00000397613.1:p.Val140Met
ENST00000461415.5:n.511G>A (ALG3)
ENST00000477959.1:n.78G>A (ALG3)
ENST00000482048.1:n.527G>A (ALG3)
ENST00000488976.5:n.423G>A (ALG3)
NM_001006941.2:c.394G>A (ALG3)	NP_001006942.1:p.Val132Met
NM_005787.5:c.538G>A (ALG3)	NP_005778.1:p.Val180Met
NR_024533.1:n.469G>A (ALG3)
NR_024534.1:n.532G>A (ALG3)
XM_011512322.1:c.439G>A (ALG3)	XP_011510624.1:p.Val147Met
XM_011512323.1:c.418G>A (ALG3)	XP_011510625.1:p.Val140Met
XM_011512323.2:c.418G>A (ALG3)	XP_011510625.1:p.Val140Met
XM_024453296.1:c.316G>A (ALG3)	XP_024309064.1:p.Val106Met
NM_005787.6:c.538G>A (ALG3) MANE Select	NP_005778.1:p.Val180Met