Canonical Allele Identifier: CA355421312

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963092T>A (hg19) ; chr3:g.184245304T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245304T>A , CM000665.2:g.184245304T>A	GRCh38
NC_000003.11:g.183963092T>A , CM000665.1:g.183963092T>A	GRCh37
NC_000003.10:g.185445786T>A	NCBI36
NG_008924.2:g.9209A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.499A>T (ALG3) MANE Select	ENSP00000380793.3:p.Ile167Phe
ENST00000397676.7:c.499A>T (ALG3)	ENSP00000380793.3:p.Ile167Phe
ENST00000411922.5:c.*75A>T (ALG3)	ENSP00000394917.1:n.*75A>T
ENST00000414845.5:c.337+164A>T (ALG3)
ENST00000423996.5:c.*264A>T (ALG3)	ENSP00000407011.1:n.*264A>T
ENST00000444495.1:c.2106+100597T>A (EIF2B5)	ENSP00000409142.1:n.2106+100597T>A
ENST00000445626.6:c.355A>T (ALG3)	ENSP00000402744.2:p.Ile119Phe
ENST00000446569.1:c.209A>T (ALG3)
ENST00000455059.5:c.379A>T (ALG3)	ENSP00000397613.1:p.Ile127Phe
ENST00000461415.5:n.472A>T (ALG3)
ENST00000477959.1:n.39A>T (ALG3)
ENST00000482048.1:n.488A>T (ALG3)
ENST00000488976.5:n.384A>T (ALG3)
NM_001006941.2:c.355A>T (ALG3)	NP_001006942.1:p.Ile119Phe
NM_005787.5:c.499A>T (ALG3)	NP_005778.1:p.Ile167Phe
NR_024533.1:n.430A>T (ALG3)
NR_024534.1:n.493A>T (ALG3)
XM_011512322.1:c.400A>T (ALG3)	XP_011510624.1:p.Ile134Phe
XM_011512323.1:c.379A>T (ALG3)	XP_011510625.1:p.Ile127Phe
XM_011512323.2:c.379A>T (ALG3)	XP_011510625.1:p.Ile127Phe
XM_024453296.1:c.277A>T (ALG3)	XP_024309064.1:p.Ile93Phe
NM_005787.6:c.499A>T (ALG3) MANE Select	NP_005778.1:p.Ile167Phe