Canonical Allele Identifier: CA437327269

Gene: ALG3 EIF2B5

Linked Data

• COSMIC: COSM1041977 ; COSM1593500
• MyVariant Identifiers: chr3:g.183963027G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245239G>A , CM000665.2:g.184245239G>A	GRCh38
NC_000003.11:g.183963027G>A , CM000665.1:g.183963027G>A	GRCh37
NC_000003.10:g.185445721G>A	NCBI36
NG_008924.2:g.9274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.564C>T (ALG3) MANE Select	ENSP00000380793.3:p.Leu188=
ENST00000397676.7:c.564C>T (ALG3)	ENSP00000380793.3:p.Leu188=
ENST00000411922.5:c.*140C>T (ALG3)	ENSP00000394917.1:n.*140C>T
ENST00000414845.5:c.337+229C>T (ALG3)
ENST00000423996.5:c.*329C>T (ALG3)	ENSP00000407011.1:n.*329C>T
ENST00000444495.1:c.2106+100532G>A (EIF2B5)	ENSP00000409142.1:n.2106+100532G>A
ENST00000445626.6:c.420C>T (ALG3)	ENSP00000402744.2:p.Leu140=
ENST00000446569.1:c.274C>T (ALG3)
ENST00000455059.5:c.444C>T (ALG3)	ENSP00000397613.1:p.Leu148=
ENST00000461415.5:n.537C>T (ALG3)
ENST00000477959.1:n.104C>T (ALG3)
ENST00000482048.1:n.553C>T (ALG3)
ENST00000488976.5:n.449C>T (ALG3)
NM_001006941.2:c.420C>T (ALG3)	NP_001006942.1:p.Leu140=
NM_005787.5:c.564C>T (ALG3)	NP_005778.1:p.Leu188=
NR_024533.1:n.495C>T (ALG3)
NR_024534.1:n.558C>T (ALG3)
XM_011512322.1:c.465C>T (ALG3)	XP_011510624.1:p.Leu155=
XM_011512323.1:c.444C>T (ALG3)	XP_011510625.1:p.Leu148=
XM_011512323.2:c.444C>T (ALG3)	XP_011510625.1:p.Leu148=
XM_024453296.1:c.342C>T (ALG3)	XP_024309064.1:p.Leu114=
NM_005787.6:c.564C>T (ALG3) MANE Select	NP_005778.1:p.Leu188=