Canonical Allele Identifier: CA2729482

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs771183881
• ExAC: 3:183962925 A / G
• gnomAD v2: 3-183962925-A-G
• gnomAD v3: 3-184245137-A-G
• gnomAD v4: 3-184245137-A-G
• MyVariant Identifiers: chr3:g.183962925A>G (hg19) ; chr3:g.184245137A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245137A>G , CM000665.2:g.184245137A>G	GRCh38
NC_000003.11:g.183962925A>G , CM000665.1:g.183962925A>G	GRCh37
NC_000003.10:g.185445619A>G	NCBI36
NG_008924.2:g.9376T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.605+61T>C (ALG3) MANE Select	ENSP00000380793.3:n.605+61T>C
ENST00000397676.7:c.605+61T>C (ALG3)	ENSP00000380793.3:n.605+61T>C
ENST00000411922.5:c.*181+61T>C (ALG3)	ENSP00000394917.1:n.*181+61T>C
ENST00000414845.5:c.337+331T>C (ALG3)
ENST00000423996.5:c.*370+61T>C (ALG3)	ENSP00000407011.1:n.*370+61T>C
ENST00000444495.1:c.2106+100430A>G (EIF2B5)	ENSP00000409142.1:n.2106+100430A>G
ENST00000445626.6:c.461+61T>C (ALG3)	ENSP00000402744.2:n.461+61T>C
ENST00000446569.1:c.315+61T>C (ALG3)
ENST00000455059.5:c.485+61T>C (ALG3)	ENSP00000397613.1:n.485+61T>C
ENST00000461415.5:n.639T>C (ALG3)
ENST00000477959.1:n.145+61T>C (ALG3)
ENST00000482048.1:n.655T>C (ALG3)
ENST00000488976.5:n.551T>C (ALG3)
NM_001006941.2:c.461+61T>C (ALG3)	NP_001006942.1:n.461+61T>C
NM_005787.5:c.605+61T>C (ALG3)	NP_005778.1:n.605+61T>C
NR_024533.1:n.536+61T>C (ALG3)
NR_024534.1:n.599+61T>C (ALG3)
XM_011512322.1:c.506+61T>C (ALG3)	XP_011510624.1:n.506+61T>C
XM_011512323.1:c.485+61T>C (ALG3)	XP_011510625.1:n.485+61T>C
XM_011512323.2:c.485+61T>C (ALG3)	XP_011510625.1:n.485+61T>C
XM_024453296.1:c.383+61T>C (ALG3)	XP_024309064.1:n.383+61T>C
NM_005787.6:c.605+61T>C (ALG3) MANE Select	NP_005778.1:n.605+61T>C