Canonical Allele Identifier: CA2668818658

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184245390A>G , CM000665.2:g.184245390A>G GRCh38
NC_000003.11:g.183963178A>G , CM000665.1:g.183963178A>G GRCh37
NC_000003.10:g.185445872A>G NCBI36
NG_008924.2:g.9123T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397676.8:c.445-32T>C (ALG3) MANE Select ENSP00000380793.3:n.445-32T>C
ENST00000397676.7:c.445-32T>C (ALG3) ENSP00000380793.3:n.445-32T>C
ENST00000411922.5:c.*21-32T>C (ALG3) ENSP00000394917.1:n.*21-32T>C
ENST00000414845.5:c.337+78T>C (ALG3)
ENST00000423996.5:c.*210-32T>C (ALG3) ENSP00000407011.1:n.*210-32T>C
ENST00000444495.1:c.2106+100683A>G (EIF2B5) ENSP00000409142.1:n.2106+100683A>G
ENST00000445626.6:c.301-32T>C (ALG3) ENSP00000402744.2:n.301-32T>C
ENST00000446569.1:c.155-32T>C (ALG3)
ENST00000455059.5:c.325-32T>C (ALG3) ENSP00000397613.1:n.325-32T>C
ENST00000461415.5:n.418-32T>C (ALG3)
ENST00000482048.1:n.434-32T>C (ALG3)
ENST00000488976.5:n.330-32T>C (ALG3)
NM_001006941.2:c.301-32T>C (ALG3) NP_001006942.1:n.301-32T>C
NM_005787.5:c.445-32T>C (ALG3) NP_005778.1:n.445-32T>C
NR_024533.1:n.376-32T>C (ALG3)
NR_024534.1:n.439-32T>C (ALG3)
XM_011512322.1:c.346-32T>C (ALG3) XP_011510624.1:n.346-32T>C
XM_011512323.1:c.325-32T>C (ALG3) XP_011510625.1:n.325-32T>C
XM_011512323.2:c.325-32T>C (ALG3) XP_011510625.1:n.325-32T>C
XM_024453296.1:c.223-32T>C (ALG3) XP_024309064.1:n.223-32T>C
NM_005787.6:c.445-32T>C (ALG3) MANE Select NP_005778.1:n.445-32T>C