Canonical Allele Identifier: CA355420952

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963007C>G (hg19) ; chr3:g.184245219C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245219C>G , CM000665.2:g.184245219C>G	GRCh38
NC_000003.11:g.183963007C>G , CM000665.1:g.183963007C>G	GRCh37
NC_000003.10:g.185445701C>G	NCBI36
NG_008924.2:g.9294G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.584G>C (ALG3) MANE Select	ENSP00000380793.3:p.Gly195Ala
ENST00000397676.7:c.584G>C (ALG3)	ENSP00000380793.3:p.Gly195Ala
ENST00000411922.5:c.*160G>C (ALG3)	ENSP00000394917.1:n.*160G>C
ENST00000414845.5:c.337+249G>C (ALG3)
ENST00000423996.5:c.*349G>C (ALG3)	ENSP00000407011.1:n.*349G>C
ENST00000444495.1:c.2106+100512C>G (EIF2B5)	ENSP00000409142.1:n.2106+100512C>G
ENST00000445626.6:c.440G>C (ALG3)	ENSP00000402744.2:p.Gly147Ala
ENST00000446569.1:c.294G>C (ALG3)
ENST00000455059.5:c.464G>C (ALG3)	ENSP00000397613.1:p.Gly155Ala
ENST00000461415.5:n.557G>C (ALG3)
ENST00000477959.1:n.124G>C (ALG3)
ENST00000482048.1:n.573G>C (ALG3)
ENST00000488976.5:n.469G>C (ALG3)
NM_001006941.2:c.440G>C (ALG3)	NP_001006942.1:p.Gly147Ala
NM_005787.5:c.584G>C (ALG3)	NP_005778.1:p.Gly195Ala
NR_024533.1:n.515G>C (ALG3)
NR_024534.1:n.578G>C (ALG3)
XM_011512322.1:c.485G>C (ALG3)	XP_011510624.1:p.Gly162Ala
XM_011512323.1:c.464G>C (ALG3)	XP_011510625.1:p.Gly155Ala
XM_011512323.2:c.464G>C (ALG3)	XP_011510625.1:p.Gly155Ala
XM_024453296.1:c.362G>C (ALG3)	XP_024309064.1:p.Gly121Ala
NM_005787.6:c.584G>C (ALG3) MANE Select	NP_005778.1:p.Gly195Ala