Canonical Allele Identifier: CA437327250

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245230-G-C
• MyVariant Identifiers: chr3:g.183963018G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245230G>C , CM000665.2:g.184245230G>C	GRCh38
NC_000003.11:g.183963018G>C , CM000665.1:g.183963018G>C	GRCh37
NC_000003.10:g.185445712G>C	NCBI36
NG_008924.2:g.9283C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.573C>G (ALG3) MANE Select	ENSP00000380793.3:p.Ala191=
ENST00000397676.7:c.573C>G (ALG3)	ENSP00000380793.3:p.Ala191=
ENST00000411922.5:c.*149C>G (ALG3)	ENSP00000394917.1:n.*149C>G
ENST00000414845.5:c.337+238C>G (ALG3)
ENST00000423996.5:c.*338C>G (ALG3)	ENSP00000407011.1:n.*338C>G
ENST00000444495.1:c.2106+100523G>C (EIF2B5)	ENSP00000409142.1:n.2106+100523G>C
ENST00000445626.6:c.429C>G (ALG3)	ENSP00000402744.2:p.Ala143=
ENST00000446569.1:c.283C>G (ALG3)
ENST00000455059.5:c.453C>G (ALG3)	ENSP00000397613.1:p.Ala151=
ENST00000461415.5:n.546C>G (ALG3)
ENST00000477959.1:n.113C>G (ALG3)
ENST00000482048.1:n.562C>G (ALG3)
ENST00000488976.5:n.458C>G (ALG3)
NM_001006941.2:c.429C>G (ALG3)	NP_001006942.1:p.Ala143=
NM_005787.5:c.573C>G (ALG3)	NP_005778.1:p.Ala191=
NR_024533.1:n.504C>G (ALG3)
NR_024534.1:n.567C>G (ALG3)
XM_011512322.1:c.474C>G (ALG3)	XP_011510624.1:p.Ala158=
XM_011512323.1:c.453C>G (ALG3)	XP_011510625.1:p.Ala151=
XM_011512323.2:c.453C>G (ALG3)	XP_011510625.1:p.Ala151=
XM_024453296.1:c.351C>G (ALG3)	XP_024309064.1:p.Ala117=
NM_005787.6:c.573C>G (ALG3) MANE Select	NP_005778.1:p.Ala191=