Canonical Allele Identifier: CA355421700

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1318043099
• gnomAD v2: 3-183963317-A-G
• MyVariant Identifiers: chr3:g.183963317A>G (hg19) ; chr3:g.184245529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245529A>G , CM000665.2:g.184245529A>G	GRCh38
NC_000003.11:g.183963317A>G , CM000665.1:g.183963317A>G	GRCh37
NC_000003.10:g.185446011A>G	NCBI36
NG_008924.2:g.8984T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.383T>C (ALG3) MANE Select	ENSP00000380793.3:p.Phe128Ser
ENST00000397676.7:c.383T>C (ALG3)	ENSP00000380793.3:p.Phe128Ser
ENST00000411922.5:c.283T>C (ALG3)	ENSP00000394917.1:p.Leu95=
ENST00000414845.5:c.276T>C (ALG3)
ENST00000423996.5:c.*148T>C (ALG3)	ENSP00000407011.1:n.*148T>C
ENST00000444495.1:c.2106+100822A>G (EIF2B5)	ENSP00000409142.1:n.2106+100822A>G
ENST00000445626.6:c.239T>C (ALG3)	ENSP00000402744.2:p.Phe80Ser
ENST00000446569.1:c.155-171T>C (ALG3)
ENST00000455059.5:c.263T>C (ALG3)	ENSP00000397613.1:p.Phe88Ser
ENST00000461415.5:n.356T>C (ALG3)
ENST00000482048.1:n.372T>C (ALG3)
ENST00000488976.5:n.268T>C (ALG3)
NM_001006941.2:c.239T>C (ALG3)	NP_001006942.1:p.Phe80Ser
NM_005787.5:c.383T>C (ALG3)	NP_005778.1:p.Phe128Ser
NR_024533.1:n.314T>C (ALG3)
NR_024534.1:n.377T>C (ALG3)
XM_011512322.1:c.284T>C (ALG3)	XP_011510624.1:p.Phe95Ser
XM_011512323.1:c.263T>C (ALG3)	XP_011510625.1:p.Phe88Ser
XM_011512323.2:c.263T>C (ALG3)	XP_011510625.1:p.Phe88Ser
XM_024453296.1:c.161T>C (ALG3)	XP_024309064.1:p.Phe54Ser
NM_005787.6:c.383T>C (ALG3) MANE Select	NP_005778.1:p.Phe128Ser