Canonical Allele Identifier: CA2668818361

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245089-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245089G>T , CM000665.2:g.184245089G>T	GRCh38
NC_000003.11:g.183962877G>T , CM000665.1:g.183962877G>T	GRCh37
NC_000003.10:g.185445571G>T	NCBI36
NG_008924.2:g.9424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.605+109C>A (ALG3) MANE Select	ENSP00000380793.3:n.605+109C>A
ENST00000397676.7:c.605+109C>A (ALG3)	ENSP00000380793.3:n.605+109C>A
ENST00000411922.5:c.*181+109C>A (ALG3)	ENSP00000394917.1:n.*181+109C>A
ENST00000414845.5:c.338-368C>A (ALG3)
ENST00000423996.5:c.*370+109C>A (ALG3)	ENSP00000407011.1:n.*370+109C>A
ENST00000444495.1:c.2106+100382G>T (EIF2B5)	ENSP00000409142.1:n.2106+100382G>T
ENST00000445626.6:c.461+109C>A (ALG3)	ENSP00000402744.2:n.461+109C>A
ENST00000446569.1:c.315+109C>A (ALG3)
ENST00000455059.5:c.485+109C>A (ALG3)	ENSP00000397613.1:n.485+109C>A
ENST00000461415.5:n.687C>A (ALG3)
ENST00000477959.1:n.145+109C>A (ALG3)
ENST00000482048.1:n.703C>A (ALG3)
ENST00000488976.5:n.599C>A (ALG3)
NM_001006941.2:c.461+109C>A (ALG3)	NP_001006942.1:n.461+109C>A
NM_005787.5:c.605+109C>A (ALG3)	NP_005778.1:n.605+109C>A
NR_024533.1:n.536+109C>A (ALG3)
NR_024534.1:n.599+109C>A (ALG3)
XM_011512322.1:c.506+109C>A (ALG3)	XP_011510624.1:n.506+109C>A
XM_011512323.1:c.485+109C>A (ALG3)	XP_011510625.1:n.485+109C>A
XM_011512323.2:c.485+109C>A (ALG3)	XP_011510625.1:n.485+109C>A
XM_024453296.1:c.383+109C>A (ALG3)	XP_024309064.1:n.383+109C>A
NM_005787.6:c.605+109C>A (ALG3) MANE Select	NP_005778.1:n.605+109C>A