Canonical Allele Identifier: CA355421653

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963303G>T (hg19) ; chr3:g.184245515G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245515G>T , CM000665.2:g.184245515G>T	GRCh38
NC_000003.11:g.183963303G>T , CM000665.1:g.183963303G>T	GRCh37
NC_000003.10:g.185445997G>T	NCBI36
NG_008924.2:g.8998C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.397C>A (ALG3) MANE Select	ENSP00000380793.3:p.Leu133Met
ENST00000397676.7:c.397C>A (ALG3)	ENSP00000380793.3:p.Leu133Met
ENST00000411922.5:c.297C>A (ALG3)	ENSP00000394917.1:p.Thr99=
ENST00000414845.5:c.290C>A (ALG3)
ENST00000423996.5:c.*162C>A (ALG3)	ENSP00000407011.1:n.*162C>A
ENST00000444495.1:c.2106+100808G>T (EIF2B5)	ENSP00000409142.1:n.2106+100808G>T
ENST00000445626.6:c.253C>A (ALG3)	ENSP00000402744.2:p.Leu85Met
ENST00000446569.1:c.155-157C>A (ALG3)
ENST00000455059.5:c.277C>A (ALG3)	ENSP00000397613.1:p.Leu93Met
ENST00000461415.5:n.370C>A (ALG3)
ENST00000482048.1:n.386C>A (ALG3)
ENST00000488976.5:n.282C>A (ALG3)
NM_001006941.2:c.253C>A (ALG3)	NP_001006942.1:p.Leu85Met
NM_005787.5:c.397C>A (ALG3)	NP_005778.1:p.Leu133Met
NR_024533.1:n.328C>A (ALG3)
NR_024534.1:n.391C>A (ALG3)
XM_011512322.1:c.298C>A (ALG3)	XP_011510624.1:p.Leu100Met
XM_011512323.1:c.277C>A (ALG3)	XP_011510625.1:p.Leu93Met
XM_011512323.2:c.277C>A (ALG3)	XP_011510625.1:p.Leu93Met
XM_024453296.1:c.175C>A (ALG3)	XP_024309064.1:p.Leu59Met
NM_005787.6:c.397C>A (ALG3) MANE Select	NP_005778.1:p.Leu133Met