Canonical Allele Identifier: CA2668818677

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245426-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245426C>T , CM000665.2:g.184245426C>T	GRCh38
NC_000003.11:g.183963214C>T , CM000665.1:g.183963214C>T	GRCh37
NC_000003.10:g.185445908C>T	NCBI36
NG_008924.2:g.9087G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.444+42G>A (ALG3) MANE Select	ENSP00000380793.3:n.444+42G>A
ENST00000397676.7:c.444+42G>A (ALG3)	ENSP00000380793.3:n.444+42G>A
ENST00000411922.5:c.*20+42G>A (ALG3)	ENSP00000394917.1:n.*20+42G>A
ENST00000414845.5:c.337+42G>A (ALG3)
ENST00000423996.5:c.*209+42G>A (ALG3)	ENSP00000407011.1:n.*209+42G>A
ENST00000444495.1:c.2106+100719C>T (EIF2B5)	ENSP00000409142.1:n.2106+100719C>T
ENST00000445626.6:c.300+42G>A (ALG3)	ENSP00000402744.2:n.300+42G>A
ENST00000446569.1:c.155-68G>A (ALG3)
ENST00000455059.5:c.324+42G>A (ALG3)	ENSP00000397613.1:n.324+42G>A
ENST00000461415.5:n.417+42G>A (ALG3)
ENST00000482048.1:n.433+42G>A (ALG3)
ENST00000488976.5:n.329+42G>A (ALG3)
NM_001006941.2:c.300+42G>A (ALG3)	NP_001006942.1:n.300+42G>A
NM_005787.5:c.444+42G>A (ALG3)	NP_005778.1:n.444+42G>A
NR_024533.1:n.375+42G>A (ALG3)
NR_024534.1:n.438+42G>A (ALG3)
XM_011512322.1:c.345+42G>A (ALG3)	XP_011510624.1:n.345+42G>A
XM_011512323.1:c.324+42G>A (ALG3)	XP_011510625.1:n.324+42G>A
XM_011512323.2:c.324+42G>A (ALG3)	XP_011510625.1:n.324+42G>A
XM_024453296.1:c.222+42G>A (ALG3)	XP_024309064.1:n.222+42G>A
NM_005787.6:c.444+42G>A (ALG3) MANE Select	NP_005778.1:n.444+42G>A