Canonical Allele Identifier: CA355421018

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963016T>A (hg19) ; chr3:g.184245228T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245228T>A , CM000665.2:g.184245228T>A	GRCh38
NC_000003.11:g.183963016T>A , CM000665.1:g.183963016T>A	GRCh37
NC_000003.10:g.185445710T>A	NCBI36
NG_008924.2:g.9285A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.575A>T (ALG3) MANE Select	ENSP00000380793.3:p.Gln192Leu
ENST00000397676.7:c.575A>T (ALG3)	ENSP00000380793.3:p.Gln192Leu
ENST00000411922.5:c.*151A>T (ALG3)	ENSP00000394917.1:n.*151A>T
ENST00000414845.5:c.337+240A>T (ALG3)
ENST00000423996.5:c.*340A>T (ALG3)	ENSP00000407011.1:n.*340A>T
ENST00000444495.1:c.2106+100521T>A (EIF2B5)	ENSP00000409142.1:n.2106+100521T>A
ENST00000445626.6:c.431A>T (ALG3)	ENSP00000402744.2:p.Gln144Leu
ENST00000446569.1:c.285A>T (ALG3)
ENST00000455059.5:c.455A>T (ALG3)	ENSP00000397613.1:p.Gln152Leu
ENST00000461415.5:n.548A>T (ALG3)
ENST00000477959.1:n.115A>T (ALG3)
ENST00000482048.1:n.564A>T (ALG3)
ENST00000488976.5:n.460A>T (ALG3)
NM_001006941.2:c.431A>T (ALG3)	NP_001006942.1:p.Gln144Leu
NM_005787.5:c.575A>T (ALG3)	NP_005778.1:p.Gln192Leu
NR_024533.1:n.506A>T (ALG3)
NR_024534.1:n.569A>T (ALG3)
XM_011512322.1:c.476A>T (ALG3)	XP_011510624.1:p.Gln159Leu
XM_011512323.1:c.455A>T (ALG3)	XP_011510625.1:p.Gln152Leu
XM_011512323.2:c.455A>T (ALG3)	XP_011510625.1:p.Gln152Leu
XM_024453296.1:c.353A>T (ALG3)	XP_024309064.1:p.Gln118Leu
NM_005787.6:c.575A>T (ALG3) MANE Select	NP_005778.1:p.Gln192Leu