Canonical Allele Identifier: CA252107

Linked Data

ClinVar Variation Id: 2129
dbSNP Id: rs119103236

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184245291C>T , CM000665.2:g.184245291C>T GRCh38
NC_000003.11:g.183963079C>T , CM000665.1:g.183963079C>T GRCh37
NC_000003.10:g.185445773C>T NCBI36
NG_008924.2:g.9222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397676.8:c.512G>A (ALG3) MANE Select ENSP00000380793.3:p.Arg171Gln
ENST00000397676.7:c.512G>A (ALG3) ENSP00000380793.3:p.Arg171Gln
ENST00000411922.5:c.*88G>A (ALG3) ENSP00000394917.1:n.*88G>A
ENST00000414845.5:c.337+177G>A (ALG3)
ENST00000423996.5:c.*277G>A (ALG3) ENSP00000407011.1:n.*277G>A
ENST00000444495.1:c.2106+100584C>T (EIF2B5) ENSP00000409142.1:n.2106+100584C>T
ENST00000445626.6:c.368G>A (ALG3) ENSP00000402744.2:p.Arg123Gln
ENST00000446569.1:c.222G>A (ALG3)
ENST00000455059.5:c.392G>A (ALG3) ENSP00000397613.1:p.Arg131Gln
ENST00000461415.5:n.485G>A (ALG3)
ENST00000477959.1:n.52G>A (ALG3)
ENST00000482048.1:n.501G>A (ALG3)
ENST00000488976.5:n.397G>A (ALG3)
NM_001006941.2:c.368G>A (ALG3) NP_001006942.1:p.Arg123Gln
NM_005787.5:c.512G>A (ALG3) NP_005778.1:p.Arg171Gln
NR_024533.1:n.443G>A (ALG3)
NR_024534.1:n.506G>A (ALG3)
XM_011512322.1:c.413G>A (ALG3) XP_011510624.1:p.Arg138Gln
XM_011512323.1:c.392G>A (ALG3) XP_011510625.1:p.Arg131Gln
XM_011512323.2:c.392G>A (ALG3) XP_011510625.1:p.Arg131Gln
XM_024453296.1:c.290G>A (ALG3) XP_024309064.1:p.Arg97Gln
NM_005787.6:c.512G>A (ALG3) MANE Select NP_005778.1:p.Arg171Gln