Canonical Allele Identifier: CA355422997

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1719117629
• gnomAD v3: 3-184245809-G-C
• gnomAD v4: 3-184245809-G-C
• MyVariant Identifiers: chr3:g.183963597G>C (hg19) ; chr3:g.184245809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245809G>C , CM000665.2:g.184245809G>C	GRCh38
NC_000003.11:g.183963597G>C , CM000665.1:g.183963597G>C	GRCh37
NC_000003.10:g.185446291G>C	NCBI36
NG_008924.2:g.8704C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.200C>G (ALG3) MANE Select	ENSP00000380793.3:p.Thr67Arg
ENST00000397676.7:c.200C>G (ALG3)	ENSP00000380793.3:p.Thr67Arg
ENST00000411922.5:c.197-194C>G (ALG3)	ENSP00000394917.1:n.197-194C>G
ENST00000414845.5:c.190-194C>G (ALG3)
ENST00000423996.5:c.163C>G (ALG3)	ENSP00000407011.1:p.Gln55Glu
ENST00000444495.1:c.2106+101102G>C (EIF2B5)	ENSP00000409142.1:n.2106+101102G>C
ENST00000445626.6:c.56C>G (ALG3)	ENSP00000402744.2:p.Thr19Arg
ENST00000446569.1:c.155-451C>G (ALG3)
ENST00000455059.5:c.80C>G (ALG3)	ENSP00000397613.1:p.Thr27Arg
ENST00000461415.5:n.173C>G (ALG3)
ENST00000482048.1:n.189C>G (ALG3)
ENST00000488976.5:n.182-194C>G (ALG3)
NM_001006941.2:c.56C>G (ALG3)	NP_001006942.1:p.Thr19Arg
NM_005787.5:c.200C>G (ALG3)	NP_005778.1:p.Thr67Arg
NR_024533.1:n.228-194C>G (ALG3)
NR_024534.1:n.194C>G (ALG3)
XM_011512322.1:c.101C>G (ALG3)	XP_011510624.1:p.Thr34Arg
XM_011512323.1:c.80C>G (ALG3)	XP_011510625.1:p.Thr27Arg
XM_011512323.2:c.80C>G (ALG3)	XP_011510625.1:p.Thr27Arg
XM_024453296.1:c.-23C>G (ALG3)	XP_024309064.1:n.-23C>G
NM_005787.6:c.200C>G (ALG3) MANE Select	NP_005778.1:p.Thr67Arg