Canonical Allele Identifier: CA437327370

Linked Data

MyVariant Identifiers: chr3:g.183963123G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184245335G>A , CM000665.2:g.184245335G>A GRCh38
NC_000003.11:g.183963123G>A , CM000665.1:g.183963123G>A GRCh37
NC_000003.10:g.185445817G>A NCBI36
NG_008924.2:g.9178C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397676.8:c.468C>T (ALG3) MANE Select ENSP00000380793.3:p.Phe156=
ENST00000397676.7:c.468C>T (ALG3) ENSP00000380793.3:p.Phe156=
ENST00000411922.5:c.*44C>T (ALG3) ENSP00000394917.1:n.*44C>T
ENST00000414845.5:c.337+133C>T (ALG3)
ENST00000423996.5:c.*233C>T (ALG3) ENSP00000407011.1:n.*233C>T
ENST00000444495.1:c.2106+100628G>A (EIF2B5) ENSP00000409142.1:n.2106+100628G>A
ENST00000445626.6:c.324C>T (ALG3) ENSP00000402744.2:p.Phe108=
ENST00000446569.1:c.178C>T (ALG3)
ENST00000455059.5:c.348C>T (ALG3) ENSP00000397613.1:p.Phe116=
ENST00000461415.5:n.441C>T (ALG3)
ENST00000477959.1:n.8C>T (ALG3)
ENST00000482048.1:n.457C>T (ALG3)
ENST00000488976.5:n.353C>T (ALG3)
NM_001006941.2:c.324C>T (ALG3) NP_001006942.1:p.Phe108=
NM_005787.5:c.468C>T (ALG3) NP_005778.1:p.Phe156=
NR_024533.1:n.399C>T (ALG3)
NR_024534.1:n.462C>T (ALG3)
XM_011512322.1:c.369C>T (ALG3) XP_011510624.1:p.Phe123=
XM_011512323.1:c.348C>T (ALG3) XP_011510625.1:p.Phe116=
XM_011512323.2:c.348C>T (ALG3) XP_011510625.1:p.Phe116=
XM_024453296.1:c.246C>T (ALG3) XP_024309064.1:p.Phe82=
NM_005787.6:c.468C>T (ALG3) MANE Select NP_005778.1:p.Phe156=