Canonical Allele Identifier: CA355421673

Gene: ALG3 EIF2B5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.391C>G (ALG3) MANE Select	ENSP00000380793.3:p.Leu131Val
ENST00000397676.7:c.391C>G (ALG3)	ENSP00000380793.3:p.Leu131Val
ENST00000411922.5:c.291C>G (ALG3)	ENSP00000394917.1:p.Cys97Trp
ENST00000414845.5:c.284C>G (ALG3)
ENST00000423996.5:c.*156C>G (ALG3)	ENSP00000407011.1:n.*156C>G
ENST00000444495.1:c.2106+100814G>C (EIF2B5)	ENSP00000409142.1:n.2106+100814G>C
ENST00000445626.6:c.247C>G (ALG3)	ENSP00000402744.2:p.Leu83Val
ENST00000446569.1:c.155-163C>G (ALG3)
ENST00000455059.5:c.271C>G (ALG3)	ENSP00000397613.1:p.Leu91Val
ENST00000461415.5:n.364C>G (ALG3)
ENST00000482048.1:n.380C>G (ALG3)
ENST00000488976.5:n.276C>G (ALG3)
NM_001006941.2:c.247C>G (ALG3)	NP_001006942.1:p.Leu83Val
NM_005787.5:c.391C>G (ALG3)	NP_005778.1:p.Leu131Val
NR_024533.1:n.322C>G (ALG3)
NR_024534.1:n.385C>G (ALG3)
XM_011512322.1:c.292C>G (ALG3)	XP_011510624.1:p.Leu98Val
XM_011512323.1:c.271C>G (ALG3)	XP_011510625.1:p.Leu91Val
XM_011512323.2:c.271C>G (ALG3)	XP_011510625.1:p.Leu91Val
XM_024453296.1:c.169C>G (ALG3)	XP_024309064.1:p.Leu57Val
NM_005787.6:c.391C>G (ALG3) MANE Select	NP_005778.1:p.Leu131Val