Canonical Allele Identifier: CA2729457

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184244658G>A , CM000665.2:g.184244658G>A GRCh38
NC_000003.11:g.183962446G>A , CM000665.1:g.183962446G>A GRCh37
NC_000003.10:g.185445140G>A NCBI36
NG_008924.2:g.9855C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397676.8:c.669C>T (ALG3) MANE Select ENSP00000380793.3:p.Leu223=
ENST00000397676.7:c.669C>T (ALG3) ENSP00000380793.3:p.Leu223=
ENST00000411922.5:c.*245C>T (ALG3) ENSP00000394917.1:n.*245C>T
ENST00000414845.5:c.401C>T (ALG3)
ENST00000423996.5:c.*434C>T (ALG3) ENSP00000407011.1:n.*434C>T
ENST00000444495.1:c.2106+99951G>A (EIF2B5) ENSP00000409142.1:n.2106+99951G>A
ENST00000445626.6:c.525C>T (ALG3) ENSP00000402744.2:p.Leu175=
ENST00000446569.1:c.379C>T (ALG3)
ENST00000455059.5:c.549C>T (ALG3) ENSP00000397613.1:p.Leu183=
ENST00000462735.6:n.364C>T (ALG3)
ENST00000477959.1:n.209C>T (ALG3)
NM_001006941.2:c.525C>T (ALG3) NP_001006942.1:p.Leu175=
NM_005787.5:c.669C>T (ALG3) NP_005778.1:p.Leu223=
NR_024533.1:n.600C>T (ALG3)
NR_024534.1:n.663C>T (ALG3)
XM_011512322.1:c.570C>T (ALG3) XP_011510624.1:p.Leu190=
XM_011512323.1:c.549C>T (ALG3) XP_011510625.1:p.Leu183=
XM_011512323.2:c.549C>T (ALG3) XP_011510625.1:p.Leu183=
XM_024453296.1:c.447C>T (ALG3) XP_024309064.1:p.Leu149=
NM_005787.6:c.669C>T (ALG3) MANE Select NP_005778.1:p.Leu223=