Canonical Allele Identifier: CA437327307

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963072G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245284G>A , CM000665.2:g.184245284G>A	GRCh38
NC_000003.11:g.183963072G>A , CM000665.1:g.183963072G>A	GRCh37
NC_000003.10:g.185445766G>A	NCBI36
NG_008924.2:g.9229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.519C>T (ALG3) MANE Select	ENSP00000380793.3:p.Phe173=
ENST00000397676.7:c.519C>T (ALG3)	ENSP00000380793.3:p.Phe173=
ENST00000411922.5:c.*95C>T (ALG3)	ENSP00000394917.1:n.*95C>T
ENST00000414845.5:c.337+184C>T (ALG3)
ENST00000423996.5:c.*284C>T (ALG3)	ENSP00000407011.1:n.*284C>T
ENST00000444495.1:c.2106+100577G>A (EIF2B5)	ENSP00000409142.1:n.2106+100577G>A
ENST00000445626.6:c.375C>T (ALG3)	ENSP00000402744.2:p.Phe125=
ENST00000446569.1:c.229C>T (ALG3)
ENST00000455059.5:c.399C>T (ALG3)	ENSP00000397613.1:p.Phe133=
ENST00000461415.5:n.492C>T (ALG3)
ENST00000477959.1:n.59C>T (ALG3)
ENST00000482048.1:n.508C>T (ALG3)
ENST00000488976.5:n.404C>T (ALG3)
NM_001006941.2:c.375C>T (ALG3)	NP_001006942.1:p.Phe125=
NM_005787.5:c.519C>T (ALG3)	NP_005778.1:p.Phe173=
NR_024533.1:n.450C>T (ALG3)
NR_024534.1:n.513C>T (ALG3)
XM_011512322.1:c.420C>T (ALG3)	XP_011510624.1:p.Phe140=
XM_011512323.1:c.399C>T (ALG3)	XP_011510625.1:p.Phe133=
XM_011512323.2:c.399C>T (ALG3)	XP_011510625.1:p.Phe133=
XM_024453296.1:c.297C>T (ALG3)	XP_024309064.1:p.Phe99=
NM_005787.6:c.519C>T (ALG3) MANE Select	NP_005778.1:p.Phe173=