Canonical Allele Identifier: CA437327366

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963307G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245519G>C , CM000665.2:g.184245519G>C	GRCh38
NC_000003.11:g.183963307G>C , CM000665.1:g.183963307G>C	GRCh37
NC_000003.10:g.185446001G>C	NCBI36
NG_008924.2:g.8994C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.393C>G (ALG3) MANE Select	ENSP00000380793.3:p.Leu131=
ENST00000397676.7:c.393C>G (ALG3)	ENSP00000380793.3:p.Leu131=
ENST00000411922.5:c.293C>G (ALG3)	ENSP00000394917.1:p.Ser98Cys
ENST00000414845.5:c.286C>G (ALG3)
ENST00000423996.5:c.*158C>G (ALG3)	ENSP00000407011.1:n.*158C>G
ENST00000444495.1:c.2106+100812G>C (EIF2B5)	ENSP00000409142.1:n.2106+100812G>C
ENST00000445626.6:c.249C>G (ALG3)	ENSP00000402744.2:p.Leu83=
ENST00000446569.1:c.155-161C>G (ALG3)
ENST00000455059.5:c.273C>G (ALG3)	ENSP00000397613.1:p.Leu91=
ENST00000461415.5:n.366C>G (ALG3)
ENST00000482048.1:n.382C>G (ALG3)
ENST00000488976.5:n.278C>G (ALG3)
NM_001006941.2:c.249C>G (ALG3)	NP_001006942.1:p.Leu83=
NM_005787.5:c.393C>G (ALG3)	NP_005778.1:p.Leu131=
NR_024533.1:n.324C>G (ALG3)
NR_024534.1:n.387C>G (ALG3)
XM_011512322.1:c.294C>G (ALG3)	XP_011510624.1:p.Leu98=
XM_011512323.1:c.273C>G (ALG3)	XP_011510625.1:p.Leu91=
XM_011512323.2:c.273C>G (ALG3)	XP_011510625.1:p.Leu91=
XM_024453296.1:c.171C>G (ALG3)	XP_024309064.1:p.Leu57=
NM_005787.6:c.393C>G (ALG3) MANE Select	NP_005778.1:p.Leu131=