Canonical Allele Identifier: CA2729364

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184243578G>A , CM000665.2:g.184243578G>A GRCh38
NC_000003.11:g.183961366G>A , CM000665.1:g.183961366G>A GRCh37
NC_000003.10:g.185444060G>A NCBI36
NG_008924.2:g.10935C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397676.8:c.985C>T (ALG3) MANE Select ENSP00000380793.3:p.Pro329Ser
ENST00000397676.7:c.985C>T (ALG3) ENSP00000380793.3:p.Pro329Ser
ENST00000411922.5:c.*561C>T (ALG3) ENSP00000394917.1:n.*561C>T
ENST00000414845.5:c.717C>T (ALG3)
ENST00000444495.1:c.2106+98871G>A (EIF2B5) ENSP00000409142.1:n.2106+98871G>A
ENST00000445626.6:c.841C>T (ALG3) ENSP00000402744.2:p.Pro281Ser
ENST00000446569.1:c.695C>T (ALG3)
ENST00000455059.5:c.865C>T (ALG3) ENSP00000397613.1:p.Pro289Ser
ENST00000462735.6:n.680C>T (ALG3)
ENST00000463495.5:n.259C>T (ALG3)
ENST00000485912.1:n.12C>T (ALG3)
NM_001006941.2:c.841C>T (ALG3) NP_001006942.1:p.Pro281Ser
NM_005787.5:c.985C>T (ALG3) NP_005778.1:p.Pro329Ser
NR_024533.1:n.916C>T (ALG3)
NR_024534.1:n.979C>T (ALG3)
XM_011512322.1:c.886C>T (ALG3) XP_011510624.1:p.Pro296Ser
XM_011512323.1:c.865C>T (ALG3) XP_011510625.1:p.Pro289Ser
XM_011512323.2:c.865C>T (ALG3) XP_011510625.1:p.Pro289Ser
XM_024453296.1:c.763C>T (ALG3) XP_024309064.1:p.Pro255Ser
NM_005787.6:c.985C>T (ALG3) MANE Select NP_005778.1:p.Pro329Ser