Canonical Allele Identifier: CA2668818345

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245078-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245078T>C , CM000665.2:g.184245078T>C	GRCh38
NC_000003.11:g.183962866T>C , CM000665.1:g.183962866T>C	GRCh37
NC_000003.10:g.185445560T>C	NCBI36
NG_008924.2:g.9435A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.605+120A>G (ALG3) MANE Select	ENSP00000380793.3:n.605+120A>G
ENST00000397676.7:c.605+120A>G (ALG3)	ENSP00000380793.3:n.605+120A>G
ENST00000411922.5:c.*181+120A>G (ALG3)	ENSP00000394917.1:n.*181+120A>G
ENST00000414845.5:c.338-357A>G (ALG3)
ENST00000423996.5:c.*370+120A>G (ALG3)	ENSP00000407011.1:n.*370+120A>G
ENST00000444495.1:c.2106+100371T>C (EIF2B5)	ENSP00000409142.1:n.2106+100371T>C
ENST00000445626.6:c.461+120A>G (ALG3)	ENSP00000402744.2:n.461+120A>G
ENST00000446569.1:c.315+120A>G (ALG3)
ENST00000455059.5:c.485+120A>G (ALG3)	ENSP00000397613.1:n.485+120A>G
ENST00000461415.5:n.698A>G (ALG3)
ENST00000477959.1:n.145+120A>G (ALG3)
ENST00000482048.1:n.714A>G (ALG3)
ENST00000488976.5:n.610A>G (ALG3)
NM_001006941.2:c.461+120A>G (ALG3)	NP_001006942.1:n.461+120A>G
NM_005787.5:c.605+120A>G (ALG3)	NP_005778.1:n.605+120A>G
NR_024533.1:n.536+120A>G (ALG3)
NR_024534.1:n.599+120A>G (ALG3)
XM_011512322.1:c.506+120A>G (ALG3)	XP_011510624.1:n.506+120A>G
XM_011512323.1:c.485+120A>G (ALG3)	XP_011510625.1:n.485+120A>G
XM_011512323.2:c.485+120A>G (ALG3)	XP_011510625.1:n.485+120A>G
XM_024453296.1:c.383+120A>G (ALG3)	XP_024309064.1:n.383+120A>G
NM_005787.6:c.605+120A>G (ALG3) MANE Select	NP_005778.1:n.605+120A>G