Canonical Allele Identifier: CA355421144

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963041G>C (hg19) ; chr3:g.184245253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245253G>C , CM000665.2:g.184245253G>C	GRCh38
NC_000003.11:g.183963041G>C , CM000665.1:g.183963041G>C	GRCh37
NC_000003.10:g.185445735G>C	NCBI36
NG_008924.2:g.9260C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.550C>G (ALG3) MANE Select	ENSP00000380793.3:p.Leu184Val
ENST00000397676.7:c.550C>G (ALG3)	ENSP00000380793.3:p.Leu184Val
ENST00000411922.5:c.*126C>G (ALG3)	ENSP00000394917.1:n.*126C>G
ENST00000414845.5:c.337+215C>G (ALG3)
ENST00000423996.5:c.*315C>G (ALG3)	ENSP00000407011.1:n.*315C>G
ENST00000444495.1:c.2106+100546G>C (EIF2B5)	ENSP00000409142.1:n.2106+100546G>C
ENST00000445626.6:c.406C>G (ALG3)	ENSP00000402744.2:p.Leu136Val
ENST00000446569.1:c.260C>G (ALG3)
ENST00000455059.5:c.430C>G (ALG3)	ENSP00000397613.1:p.Leu144Val
ENST00000461415.5:n.523C>G (ALG3)
ENST00000477959.1:n.90C>G (ALG3)
ENST00000482048.1:n.539C>G (ALG3)
ENST00000488976.5:n.435C>G (ALG3)
NM_001006941.2:c.406C>G (ALG3)	NP_001006942.1:p.Leu136Val
NM_005787.5:c.550C>G (ALG3)	NP_005778.1:p.Leu184Val
NR_024533.1:n.481C>G (ALG3)
NR_024534.1:n.544C>G (ALG3)
XM_011512322.1:c.451C>G (ALG3)	XP_011510624.1:p.Leu151Val
XM_011512323.1:c.430C>G (ALG3)	XP_011510625.1:p.Leu144Val
XM_011512323.2:c.430C>G (ALG3)	XP_011510625.1:p.Leu144Val
XM_024453296.1:c.328C>G (ALG3)	XP_024309064.1:p.Leu110Val
NM_005787.6:c.550C>G (ALG3) MANE Select	NP_005778.1:p.Leu184Val