Canonical Allele Identifier: CA1425931002

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs370523588
• gnomAD v4: 3-184245073-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245073C>G , CM000665.2:g.184245073C>G	GRCh38
NC_000003.11:g.183962861C>G , CM000665.1:g.183962861C>G	GRCh37
NC_000003.10:g.185445555C>G	NCBI36
NG_008924.2:g.9440G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.605+125G>C (ALG3) MANE Select	ENSP00000380793.3:n.605+125G>C
ENST00000397676.7:c.605+125G>C (ALG3)	ENSP00000380793.3:n.605+125G>C
ENST00000411922.5:c.*181+125G>C (ALG3)	ENSP00000394917.1:n.*181+125G>C
ENST00000414845.5:c.338-352G>C (ALG3)
ENST00000423996.5:c.*370+125G>C (ALG3)	ENSP00000407011.1:n.*370+125G>C
ENST00000444495.1:c.2106+100366C>G (EIF2B5)	ENSP00000409142.1:n.2106+100366C>G
ENST00000445626.6:c.461+125G>C (ALG3)	ENSP00000402744.2:n.461+125G>C
ENST00000446569.1:c.315+125G>C (ALG3)
ENST00000455059.5:c.485+125G>C (ALG3)	ENSP00000397613.1:n.485+125G>C
ENST00000461415.5:n.703G>C (ALG3)
ENST00000477959.1:n.145+125G>C (ALG3)
ENST00000482048.1:n.719G>C (ALG3)
ENST00000488976.5:n.615G>C (ALG3)
NM_001006941.2:c.461+125G>C (ALG3)	NP_001006942.1:n.461+125G>C
NM_005787.5:c.605+125G>C (ALG3)	NP_005778.1:n.605+125G>C
NR_024533.1:n.536+125G>C (ALG3)
NR_024534.1:n.599+125G>C (ALG3)
XM_011512322.1:c.506+125G>C (ALG3)	XP_011510624.1:n.506+125G>C
XM_011512323.1:c.485+125G>C (ALG3)	XP_011510625.1:n.485+125G>C
XM_011512323.2:c.485+125G>C (ALG3)	XP_011510625.1:n.485+125G>C
XM_024453296.1:c.383+125G>C (ALG3)	XP_024309064.1:n.383+125G>C
NM_005787.6:c.605+125G>C (ALG3) MANE Select	NP_005778.1:n.605+125G>C