Canonical Allele Identifier: CA10615878

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184242821G>A , CM000665.2:g.184242821G>A GRCh38
NC_000003.11:g.183960609G>A , CM000665.1:g.183960609G>A GRCh37
NC_000003.10:g.185443303G>A NCBI36
NG_008924.2:g.11692C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397676.8:c.1146C>T (ALG3) MANE Select ENSP00000380793.3:p.His382=
ENST00000397676.7:c.1146C>T (ALG3) ENSP00000380793.3:p.His382=
ENST00000411922.5:c.*722C>T (ALG3) ENSP00000394917.1:n.*722C>T
ENST00000444495.1:c.2106+98114G>A (EIF2B5) ENSP00000409142.1:n.2106+98114G>A
ENST00000445626.6:c.1002C>T (ALG3) ENSP00000402744.2:p.His334=
ENST00000446569.1:c.856C>T (ALG3)
ENST00000455059.5:c.1026C>T (ALG3) ENSP00000397613.1:p.His342=
ENST00000485912.1:n.769C>T (ALG3)
NM_001006941.2:c.1002C>T (ALG3) NP_001006942.1:p.His334=
NM_005787.5:c.1146C>T (ALG3) NP_005778.1:p.His382=
NR_024533.1:n.1077C>T (ALG3)
NR_024534.1:n.1140C>T (ALG3)
XM_011512322.1:c.1047C>T (ALG3) XP_011510624.1:p.His349=
XM_011512323.1:c.1026C>T (ALG3) XP_011510625.1:p.His342=
XM_011512323.2:c.1026C>T (ALG3) XP_011510625.1:p.His342=
XM_024453296.1:c.924C>T (ALG3) XP_024309064.1:p.His308=
NM_005787.6:c.1146C>T (ALG3) MANE Select NP_005778.1:p.His382=