Canonical Allele Identifier: CA88879091

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs75446351
• MyVariant Identifiers: chr3:g.183963052A>C (hg19) ; chr3:g.184245264A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245264A>C , CM000665.2:g.184245264A>C	GRCh38
NC_000003.11:g.183963052A>C , CM000665.1:g.183963052A>C	GRCh37
NC_000003.10:g.185445746A>C	NCBI36
NG_008924.2:g.9249T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.539T>G (ALG3) MANE Select	ENSP00000380793.3:p.Val180Gly
ENST00000397676.7:c.539T>G (ALG3)	ENSP00000380793.3:p.Val180Gly
ENST00000411922.5:c.*115T>G (ALG3)	ENSP00000394917.1:n.*115T>G
ENST00000414845.5:c.337+204T>G (ALG3)
ENST00000423996.5:c.*304T>G (ALG3)	ENSP00000407011.1:n.*304T>G
ENST00000444495.1:c.2106+100557A>C (EIF2B5)	ENSP00000409142.1:n.2106+100557A>C
ENST00000445626.6:c.395T>G (ALG3)	ENSP00000402744.2:p.Val132Gly
ENST00000446569.1:c.249T>G (ALG3)
ENST00000455059.5:c.419T>G (ALG3)	ENSP00000397613.1:p.Val140Gly
ENST00000461415.5:n.512T>G (ALG3)
ENST00000477959.1:n.79T>G (ALG3)
ENST00000482048.1:n.528T>G (ALG3)
ENST00000488976.5:n.424T>G (ALG3)
NM_001006941.2:c.395T>G (ALG3)	NP_001006942.1:p.Val132Gly
NM_005787.5:c.539T>G (ALG3)	NP_005778.1:p.Val180Gly
NR_024533.1:n.470T>G (ALG3)
NR_024534.1:n.533T>G (ALG3)
XM_011512322.1:c.440T>G (ALG3)	XP_011510624.1:p.Val147Gly
XM_011512323.1:c.419T>G (ALG3)	XP_011510625.1:p.Val140Gly
XM_011512323.2:c.419T>G (ALG3)	XP_011510625.1:p.Val140Gly
XM_024453296.1:c.317T>G (ALG3)	XP_024309064.1:p.Val106Gly
NM_005787.6:c.539T>G (ALG3) MANE Select	NP_005778.1:p.Val180Gly