Canonical Allele Identifier: CA2729725

Gene: EIF2B5 ALG3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184249232C>A , CM000665.2:g.184249232C>A	GRCh38
NC_000003.11:g.183967020C>A , CM000665.1:g.183967020C>A	GRCh37
NC_000003.10:g.185449714C>A	NCBI36
NG_008924.2:g.5281G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001006941.2:c.46G>T (ALG3)	NP_001006942.1:p.Gly16Trp
ENST00000444495.1:c.2106+104525C>A (EIF2B5)	ENSP00000409142.1:n.2106+104525C>A
ENST00000445626.6:c.46G>T (ALG3)	ENSP00000402744.2:p.Gly16Trp
ENST00000455059.5:c.-167G>T (ALG3)	ENSP00000397613.1:n.-167G>T
XM_024453296.1:c.-27+2510G>T (ALG3)	XP_024309064.1:n.-27+2510G>T