Canonical Allele Identifier: CA355421675

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963309G>T (hg19) ; chr3:g.184245521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245521G>T , CM000665.2:g.184245521G>T	GRCh38
NC_000003.11:g.183963309G>T , CM000665.1:g.183963309G>T	GRCh37
NC_000003.10:g.185446003G>T	NCBI36
NG_008924.2:g.8992C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.391C>A (ALG3) MANE Select	ENSP00000380793.3:p.Leu131Ile
ENST00000397676.7:c.391C>A (ALG3)	ENSP00000380793.3:p.Leu131Ile
ENST00000411922.5:c.291C>A (ALG3)	ENSP00000394917.1:p.Cys97Ter
ENST00000414845.5:c.284C>A (ALG3)
ENST00000423996.5:c.*156C>A (ALG3)	ENSP00000407011.1:n.*156C>A
ENST00000444495.1:c.2106+100814G>T (EIF2B5)	ENSP00000409142.1:n.2106+100814G>T
ENST00000445626.6:c.247C>A (ALG3)	ENSP00000402744.2:p.Leu83Ile
ENST00000446569.1:c.155-163C>A (ALG3)
ENST00000455059.5:c.271C>A (ALG3)	ENSP00000397613.1:p.Leu91Ile
ENST00000461415.5:n.364C>A (ALG3)
ENST00000482048.1:n.380C>A (ALG3)
ENST00000488976.5:n.276C>A (ALG3)
NM_001006941.2:c.247C>A (ALG3)	NP_001006942.1:p.Leu83Ile
NM_005787.5:c.391C>A (ALG3)	NP_005778.1:p.Leu131Ile
NR_024533.1:n.322C>A (ALG3)
NR_024534.1:n.385C>A (ALG3)
XM_011512322.1:c.292C>A (ALG3)	XP_011510624.1:p.Leu98Ile
XM_011512323.1:c.271C>A (ALG3)	XP_011510625.1:p.Leu91Ile
XM_011512323.2:c.271C>A (ALG3)	XP_011510625.1:p.Leu91Ile
XM_024453296.1:c.169C>A (ALG3)	XP_024309064.1:p.Leu57Ile
NM_005787.6:c.391C>A (ALG3) MANE Select	NP_005778.1:p.Leu131Ile