Canonical Allele Identifier: CA355421175

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963050G>C (hg19) ; chr3:g.184245262G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245262G>C , CM000665.2:g.184245262G>C	GRCh38
NC_000003.11:g.183963050G>C , CM000665.1:g.183963050G>C	GRCh37
NC_000003.10:g.185445744G>C	NCBI36
NG_008924.2:g.9251C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.541C>G (ALG3) MANE Select	ENSP00000380793.3:p.Leu181Val
ENST00000397676.7:c.541C>G (ALG3)	ENSP00000380793.3:p.Leu181Val
ENST00000411922.5:c.*117C>G (ALG3)	ENSP00000394917.1:n.*117C>G
ENST00000414845.5:c.337+206C>G (ALG3)
ENST00000423996.5:c.*306C>G (ALG3)	ENSP00000407011.1:n.*306C>G
ENST00000444495.1:c.2106+100555G>C (EIF2B5)	ENSP00000409142.1:n.2106+100555G>C
ENST00000445626.6:c.397C>G (ALG3)	ENSP00000402744.2:p.Leu133Val
ENST00000446569.1:c.251C>G (ALG3)
ENST00000455059.5:c.421C>G (ALG3)	ENSP00000397613.1:p.Leu141Val
ENST00000461415.5:n.514C>G (ALG3)
ENST00000477959.1:n.81C>G (ALG3)
ENST00000482048.1:n.530C>G (ALG3)
ENST00000488976.5:n.426C>G (ALG3)
NM_001006941.2:c.397C>G (ALG3)	NP_001006942.1:p.Leu133Val
NM_005787.5:c.541C>G (ALG3)	NP_005778.1:p.Leu181Val
NR_024533.1:n.472C>G (ALG3)
NR_024534.1:n.535C>G (ALG3)
XM_011512322.1:c.442C>G (ALG3)	XP_011510624.1:p.Leu148Val
XM_011512323.1:c.421C>G (ALG3)	XP_011510625.1:p.Leu141Val
XM_011512323.2:c.421C>G (ALG3)	XP_011510625.1:p.Leu141Val
XM_024453296.1:c.319C>G (ALG3)	XP_024309064.1:p.Leu107Val
NM_005787.6:c.541C>G (ALG3) MANE Select	NP_005778.1:p.Leu181Val