Canonical Allele Identifier: CA437327300

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963060C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245272C>G , CM000665.2:g.184245272C>G	GRCh38
NC_000003.11:g.183963060C>G , CM000665.1:g.183963060C>G	GRCh37
NC_000003.10:g.185445754C>G	NCBI36
NG_008924.2:g.9241G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.531G>C (ALG3) MANE Select	ENSP00000380793.3:p.Val177=
ENST00000397676.7:c.531G>C (ALG3)	ENSP00000380793.3:p.Val177=
ENST00000411922.5:c.*107G>C (ALG3)	ENSP00000394917.1:n.*107G>C
ENST00000414845.5:c.337+196G>C (ALG3)
ENST00000423996.5:c.*296G>C (ALG3)	ENSP00000407011.1:n.*296G>C
ENST00000444495.1:c.2106+100565C>G (EIF2B5)	ENSP00000409142.1:n.2106+100565C>G
ENST00000445626.6:c.387G>C (ALG3)	ENSP00000402744.2:p.Val129=
ENST00000446569.1:c.241G>C (ALG3)
ENST00000455059.5:c.411G>C (ALG3)	ENSP00000397613.1:p.Val137=
ENST00000461415.5:n.504G>C (ALG3)
ENST00000477959.1:n.71G>C (ALG3)
ENST00000482048.1:n.520G>C (ALG3)
ENST00000488976.5:n.416G>C (ALG3)
NM_001006941.2:c.387G>C (ALG3)	NP_001006942.1:p.Val129=
NM_005787.5:c.531G>C (ALG3)	NP_005778.1:p.Val177=
NR_024533.1:n.462G>C (ALG3)
NR_024534.1:n.525G>C (ALG3)
XM_011512322.1:c.432G>C (ALG3)	XP_011510624.1:p.Val144=
XM_011512323.1:c.411G>C (ALG3)	XP_011510625.1:p.Val137=
XM_011512323.2:c.411G>C (ALG3)	XP_011510625.1:p.Val137=
XM_024453296.1:c.309G>C (ALG3)	XP_024309064.1:p.Val103=
NM_005787.6:c.531G>C (ALG3) MANE Select	NP_005778.1:p.Val177=