Canonical Allele Identifier: CA355420971

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963009C>A (hg19) ; chr3:g.184245221C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245221C>A , CM000665.2:g.184245221C>A	GRCh38
NC_000003.11:g.183963009C>A , CM000665.1:g.183963009C>A	GRCh37
NC_000003.10:g.185445703C>A	NCBI36
NG_008924.2:g.9292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.582G>T (ALG3) MANE Select	ENSP00000380793.3:p.Trp194Cys
ENST00000397676.7:c.582G>T (ALG3)	ENSP00000380793.3:p.Trp194Cys
ENST00000411922.5:c.*158G>T (ALG3)	ENSP00000394917.1:n.*158G>T
ENST00000414845.5:c.337+247G>T (ALG3)
ENST00000423996.5:c.*347G>T (ALG3)	ENSP00000407011.1:n.*347G>T
ENST00000444495.1:c.2106+100514C>A (EIF2B5)	ENSP00000409142.1:n.2106+100514C>A
ENST00000445626.6:c.438G>T (ALG3)	ENSP00000402744.2:p.Trp146Cys
ENST00000446569.1:c.292G>T (ALG3)
ENST00000455059.5:c.462G>T (ALG3)	ENSP00000397613.1:p.Trp154Cys
ENST00000461415.5:n.555G>T (ALG3)
ENST00000477959.1:n.122G>T (ALG3)
ENST00000482048.1:n.571G>T (ALG3)
ENST00000488976.5:n.467G>T (ALG3)
NM_001006941.2:c.438G>T (ALG3)	NP_001006942.1:p.Trp146Cys
NM_005787.5:c.582G>T (ALG3)	NP_005778.1:p.Trp194Cys
NR_024533.1:n.513G>T (ALG3)
NR_024534.1:n.576G>T (ALG3)
XM_011512322.1:c.483G>T (ALG3)	XP_011510624.1:p.Trp161Cys
XM_011512323.1:c.462G>T (ALG3)	XP_011510625.1:p.Trp154Cys
XM_011512323.2:c.462G>T (ALG3)	XP_011510625.1:p.Trp154Cys
XM_024453296.1:c.360G>T (ALG3)	XP_024309064.1:p.Trp120Cys
NM_005787.6:c.582G>T (ALG3) MANE Select	NP_005778.1:p.Trp194Cys