Canonical Allele Identifier: CA355421394

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1420712806
• gnomAD v2: 3-183963118-C-T
• MyVariant Identifiers: chr3:g.183963118C>T (hg19) ; chr3:g.184245330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245330C>T , CM000665.2:g.184245330C>T	GRCh38
NC_000003.11:g.183963118C>T , CM000665.1:g.183963118C>T	GRCh37
NC_000003.10:g.185445812C>T	NCBI36
NG_008924.2:g.9183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.473G>A (ALG3) MANE Select	ENSP00000380793.3:p.Cys158Tyr
ENST00000397676.7:c.473G>A (ALG3)	ENSP00000380793.3:p.Cys158Tyr
ENST00000411922.5:c.*49G>A (ALG3)	ENSP00000394917.1:n.*49G>A
ENST00000414845.5:c.337+138G>A (ALG3)
ENST00000423996.5:c.*238G>A (ALG3)	ENSP00000407011.1:n.*238G>A
ENST00000444495.1:c.2106+100623C>T (EIF2B5)	ENSP00000409142.1:n.2106+100623C>T
ENST00000445626.6:c.329G>A (ALG3)	ENSP00000402744.2:p.Cys110Tyr
ENST00000446569.1:c.183G>A (ALG3)
ENST00000455059.5:c.353G>A (ALG3)	ENSP00000397613.1:p.Cys118Tyr
ENST00000461415.5:n.446G>A (ALG3)
ENST00000477959.1:n.13G>A (ALG3)
ENST00000482048.1:n.462G>A (ALG3)
ENST00000488976.5:n.358G>A (ALG3)
NM_001006941.2:c.329G>A (ALG3)	NP_001006942.1:p.Cys110Tyr
NM_005787.5:c.473G>A (ALG3)	NP_005778.1:p.Cys158Tyr
NR_024533.1:n.404G>A (ALG3)
NR_024534.1:n.467G>A (ALG3)
XM_011512322.1:c.374G>A (ALG3)	XP_011510624.1:p.Cys125Tyr
XM_011512323.1:c.353G>A (ALG3)	XP_011510625.1:p.Cys118Tyr
XM_011512323.2:c.353G>A (ALG3)	XP_011510625.1:p.Cys118Tyr
XM_024453296.1:c.251G>A (ALG3)	XP_024309064.1:p.Cys84Tyr
NM_005787.6:c.473G>A (ALG3) MANE Select	NP_005778.1:p.Cys158Tyr