Canonical Allele Identifier: CA355421414

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1369856877
• gnomAD v3: 3-184245339-A-C
• gnomAD v4: 3-184245339-A-C
• MyVariant Identifiers: chr3:g.183963127A>C (hg19) ; chr3:g.184245339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245339A>C , CM000665.2:g.184245339A>C	GRCh38
NC_000003.11:g.183963127A>C , CM000665.1:g.183963127A>C	GRCh37
NC_000003.10:g.185445821A>C	NCBI36
NG_008924.2:g.9174T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.464T>G (ALG3) MANE Select	ENSP00000380793.3:p.Phe155Cys
ENST00000397676.7:c.464T>G (ALG3)	ENSP00000380793.3:p.Phe155Cys
ENST00000411922.5:c.*40T>G (ALG3)	ENSP00000394917.1:n.*40T>G
ENST00000414845.5:c.337+129T>G (ALG3)
ENST00000423996.5:c.*229T>G (ALG3)	ENSP00000407011.1:n.*229T>G
ENST00000444495.1:c.2106+100632A>C (EIF2B5)	ENSP00000409142.1:n.2106+100632A>C
ENST00000445626.6:c.320T>G (ALG3)	ENSP00000402744.2:p.Phe107Cys
ENST00000446569.1:c.174T>G (ALG3)
ENST00000455059.5:c.344T>G (ALG3)	ENSP00000397613.1:p.Phe115Cys
ENST00000461415.5:n.437T>G (ALG3)
ENST00000477959.1:n.4T>G (ALG3)
ENST00000482048.1:n.453T>G (ALG3)
ENST00000488976.5:n.349T>G (ALG3)
NM_001006941.2:c.320T>G (ALG3)	NP_001006942.1:p.Phe107Cys
NM_005787.5:c.464T>G (ALG3)	NP_005778.1:p.Phe155Cys
NR_024533.1:n.395T>G (ALG3)
NR_024534.1:n.458T>G (ALG3)
XM_011512322.1:c.365T>G (ALG3)	XP_011510624.1:p.Phe122Cys
XM_011512323.1:c.344T>G (ALG3)	XP_011510625.1:p.Phe115Cys
XM_011512323.2:c.344T>G (ALG3)	XP_011510625.1:p.Phe115Cys
XM_024453296.1:c.242T>G (ALG3)	XP_024309064.1:p.Phe81Cys
NM_005787.6:c.464T>G (ALG3) MANE Select	NP_005778.1:p.Phe155Cys