Canonical Allele Identifier: CA252108

Linked Data

ClinVar Variation Id: 2130
dbSNP Id: rs119103237

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184245798A>G , CM000665.2:g.184245798A>G GRCh38
NC_000003.11:g.183963586A>G , CM000665.1:g.183963586A>G GRCh37
NC_000003.10:g.185446280A>G NCBI36
NG_008924.2:g.8715T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000397676.8:c.211T>C (ALG3) MANE Select ENSP00000380793.3:p.Trp71Arg
ENST00000397676.7:c.211T>C (ALG3) ENSP00000380793.3:p.Trp71Arg
ENST00000411922.5:c.197-183T>C (ALG3) ENSP00000394917.1:n.197-183T>C
ENST00000414845.5:c.190-183T>C (ALG3)
ENST00000423996.5:c.174T>C (ALG3) ENSP00000407011.1:p.Thr58=
ENST00000444495.1:c.2106+101091A>G (EIF2B5) ENSP00000409142.1:n.2106+101091A>G
ENST00000445626.6:c.67T>C (ALG3) ENSP00000402744.2:p.Trp23Arg
ENST00000446569.1:c.155-440T>C (ALG3)
ENST00000455059.5:c.91T>C (ALG3) ENSP00000397613.1:p.Trp31Arg
ENST00000461415.5:n.184T>C (ALG3)
ENST00000482048.1:n.200T>C (ALG3)
ENST00000488976.5:n.182-183T>C (ALG3)
NM_001006941.2:c.67T>C (ALG3) NP_001006942.1:p.Trp23Arg
NM_005787.5:c.211T>C (ALG3) NP_005778.1:p.Trp71Arg
NR_024533.1:n.228-183T>C (ALG3)
NR_024534.1:n.205T>C (ALG3)
XM_011512322.1:c.112T>C (ALG3) XP_011510624.1:p.Trp38Arg
XM_011512323.1:c.91T>C (ALG3) XP_011510625.1:p.Trp31Arg
XM_011512323.2:c.91T>C (ALG3) XP_011510625.1:p.Trp31Arg
XM_024453296.1:c.-12T>C (ALG3) XP_024309064.1:n.-12T>C
NM_005787.6:c.211T>C (ALG3) MANE Select NP_005778.1:p.Trp71Arg