Canonical Allele Identifier: CA548794589

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1357051615
• gnomAD v2: 3-183963231-T-G
• gnomAD v4: 3-184245443-T-G
• MyVariant Identifiers: chr3:g.183963231T>G (hg19) ; chr3:g.184245443T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245443T>G , CM000665.2:g.184245443T>G	GRCh38
NC_000003.11:g.183963231T>G , CM000665.1:g.183963231T>G	GRCh37
NC_000003.10:g.185445925T>G	NCBI36
NG_008924.2:g.9070A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.444+25A>C (ALG3) MANE Select	ENSP00000380793.3:n.444+25A>C
ENST00000397676.7:c.444+25A>C (ALG3)	ENSP00000380793.3:n.444+25A>C
ENST00000411922.5:c.*20+25A>C (ALG3)	ENSP00000394917.1:n.*20+25A>C
ENST00000414845.5:c.337+25A>C (ALG3)
ENST00000423996.5:c.*209+25A>C (ALG3)	ENSP00000407011.1:n.*209+25A>C
ENST00000444495.1:c.2106+100736T>G (EIF2B5)	ENSP00000409142.1:n.2106+100736T>G
ENST00000445626.6:c.300+25A>C (ALG3)	ENSP00000402744.2:n.300+25A>C
ENST00000446569.1:c.155-85A>C (ALG3)
ENST00000455059.5:c.324+25A>C (ALG3)	ENSP00000397613.1:n.324+25A>C
ENST00000461415.5:n.417+25A>C (ALG3)
ENST00000482048.1:n.433+25A>C (ALG3)
ENST00000488976.5:n.329+25A>C (ALG3)
NM_001006941.2:c.300+25A>C (ALG3)	NP_001006942.1:n.300+25A>C
NM_005787.5:c.444+25A>C (ALG3)	NP_005778.1:n.444+25A>C
NR_024533.1:n.375+25A>C (ALG3)
NR_024534.1:n.438+25A>C (ALG3)
XM_011512322.1:c.345+25A>C (ALG3)	XP_011510624.1:n.345+25A>C
XM_011512323.1:c.324+25A>C (ALG3)	XP_011510625.1:n.324+25A>C
XM_011512323.2:c.324+25A>C (ALG3)	XP_011510625.1:n.324+25A>C
XM_024453296.1:c.222+25A>C (ALG3)	XP_024309064.1:n.222+25A>C
NM_005787.6:c.444+25A>C (ALG3) MANE Select	NP_005778.1:n.444+25A>C