Canonical Allele Identifier: CA2729467

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184244731G>A , CM000665.2:g.184244731G>A	GRCh38
NC_000003.11:g.183962519G>A , CM000665.1:g.183962519G>A	GRCh37
NC_000003.10:g.185445213G>A	NCBI36
NG_008924.2:g.9782C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.606-10C>T (ALG3) MANE Select	NP_005778.1:n.606-10C>T
ENST00000397676.8:c.606-10C>T (ALG3) MANE Select	ENSP00000380793.3:n.606-10C>T
NM_001006941.2:c.462-10C>T (ALG3)	NP_001006942.1:n.462-10C>T
NM_005787.5:c.606-10C>T (ALG3)	NP_005778.1:n.606-10C>T
NR_024533.1:n.537-10C>T (ALG3)
NR_024534.1:n.600-10C>T (ALG3)
ENST00000397676.7:c.606-10C>T (ALG3)	ENSP00000380793.3:n.606-10C>T
ENST00000411922.5:c.*182-10C>T (ALG3)	ENSP00000394917.1:n.*182-10C>T
ENST00000414845.5:c.338-10C>T (ALG3)
ENST00000423996.5:c.*371-10C>T (ALG3)	ENSP00000407011.1:n.*371-10C>T
ENST00000444495.1:c.2106+100024G>A (EIF2B5)	ENSP00000409142.1:n.2106+100024G>A
ENST00000445626.6:c.462-10C>T (ALG3)	ENSP00000402744.2:n.462-10C>T
ENST00000446569.1:c.316-10C>T (ALG3)
ENST00000455059.5:c.486-10C>T (ALG3)	ENSP00000397613.1:n.486-10C>T
ENST00000462735.6:n.291C>T (ALG3)
ENST00000477959.1:n.146-10C>T (ALG3)
XM_011512322.1:c.507-10C>T (ALG3)	XP_011510624.1:n.507-10C>T
XM_011512323.1:c.486-10C>T (ALG3)	XP_011510625.1:n.486-10C>T
XM_011512323.2:c.486-10C>T (ALG3)	XP_011510625.1:n.486-10C>T
XM_024453296.1:c.384-10C>T (ALG3)	XP_024309064.1:n.384-10C>T