Canonical Allele Identifier: CA2668818704

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245447-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245447G>C , CM000665.2:g.184245447G>C	GRCh38
NC_000003.11:g.183963235G>C , CM000665.1:g.183963235G>C	GRCh37
NC_000003.10:g.185445929G>C	NCBI36
NG_008924.2:g.9066C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.444+21C>G (ALG3) MANE Select	ENSP00000380793.3:n.444+21C>G
ENST00000397676.7:c.444+21C>G (ALG3)	ENSP00000380793.3:n.444+21C>G
ENST00000411922.5:c.*20+21C>G (ALG3)	ENSP00000394917.1:n.*20+21C>G
ENST00000414845.5:c.337+21C>G (ALG3)
ENST00000423996.5:c.*209+21C>G (ALG3)	ENSP00000407011.1:n.*209+21C>G
ENST00000444495.1:c.2106+100740G>C (EIF2B5)	ENSP00000409142.1:n.2106+100740G>C
ENST00000445626.6:c.300+21C>G (ALG3)	ENSP00000402744.2:n.300+21C>G
ENST00000446569.1:c.155-89C>G (ALG3)
ENST00000455059.5:c.324+21C>G (ALG3)	ENSP00000397613.1:n.324+21C>G
ENST00000461415.5:n.417+21C>G (ALG3)
ENST00000482048.1:n.433+21C>G (ALG3)
ENST00000488976.5:n.329+21C>G (ALG3)
NM_001006941.2:c.300+21C>G (ALG3)	NP_001006942.1:n.300+21C>G
NM_005787.5:c.444+21C>G (ALG3)	NP_005778.1:n.444+21C>G
NR_024533.1:n.375+21C>G (ALG3)
NR_024534.1:n.438+21C>G (ALG3)
XM_011512322.1:c.345+21C>G (ALG3)	XP_011510624.1:n.345+21C>G
XM_011512323.1:c.324+21C>G (ALG3)	XP_011510625.1:n.324+21C>G
XM_011512323.2:c.324+21C>G (ALG3)	XP_011510625.1:n.324+21C>G
XM_024453296.1:c.222+21C>G (ALG3)	XP_024309064.1:n.222+21C>G
NM_005787.6:c.444+21C>G (ALG3) MANE Select	NP_005778.1:n.444+21C>G