Canonical Allele Identifier: CA437327287

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245260-C-G
• MyVariant Identifiers: chr3:g.183963048C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245260C>G , CM000665.2:g.184245260C>G	GRCh38
NC_000003.11:g.183963048C>G , CM000665.1:g.183963048C>G	GRCh37
NC_000003.10:g.185445742C>G	NCBI36
NG_008924.2:g.9253G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.543G>C (ALG3) MANE Select	ENSP00000380793.3:p.Leu181=
ENST00000397676.7:c.543G>C (ALG3)	ENSP00000380793.3:p.Leu181=
ENST00000411922.5:c.*119G>C (ALG3)	ENSP00000394917.1:n.*119G>C
ENST00000414845.5:c.337+208G>C (ALG3)
ENST00000423996.5:c.*308G>C (ALG3)	ENSP00000407011.1:n.*308G>C
ENST00000444495.1:c.2106+100553C>G (EIF2B5)	ENSP00000409142.1:n.2106+100553C>G
ENST00000445626.6:c.399G>C (ALG3)	ENSP00000402744.2:p.Leu133=
ENST00000446569.1:c.253G>C (ALG3)
ENST00000455059.5:c.423G>C (ALG3)	ENSP00000397613.1:p.Leu141=
ENST00000461415.5:n.516G>C (ALG3)
ENST00000477959.1:n.83G>C (ALG3)
ENST00000482048.1:n.532G>C (ALG3)
ENST00000488976.5:n.428G>C (ALG3)
NM_001006941.2:c.399G>C (ALG3)	NP_001006942.1:p.Leu133=
NM_005787.5:c.543G>C (ALG3)	NP_005778.1:p.Leu181=
NR_024533.1:n.474G>C (ALG3)
NR_024534.1:n.537G>C (ALG3)
XM_011512322.1:c.444G>C (ALG3)	XP_011510624.1:p.Leu148=
XM_011512323.1:c.423G>C (ALG3)	XP_011510625.1:p.Leu141=
XM_011512323.2:c.423G>C (ALG3)	XP_011510625.1:p.Leu141=
XM_024453296.1:c.321G>C (ALG3)	XP_024309064.1:p.Leu107=
NM_005787.6:c.543G>C (ALG3) MANE Select	NP_005778.1:p.Leu181=