Canonical Allele Identifier: CA437327223

Linked Data

MyVariant Identifiers: chr3:g.183963006G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184245218G>A , CM000665.2:g.184245218G>A GRCh38
NC_000003.11:g.183963006G>A , CM000665.1:g.183963006G>A GRCh37
NC_000003.10:g.185445700G>A NCBI36
NG_008924.2:g.9295C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397676.8:c.585C>T (ALG3) MANE Select ENSP00000380793.3:p.Gly195=
ENST00000397676.7:c.585C>T (ALG3) ENSP00000380793.3:p.Gly195=
ENST00000411922.5:c.*161C>T (ALG3) ENSP00000394917.1:n.*161C>T
ENST00000414845.5:c.337+250C>T (ALG3)
ENST00000423996.5:c.*350C>T (ALG3) ENSP00000407011.1:n.*350C>T
ENST00000444495.1:c.2106+100511G>A (EIF2B5) ENSP00000409142.1:n.2106+100511G>A
ENST00000445626.6:c.441C>T (ALG3) ENSP00000402744.2:p.Gly147=
ENST00000446569.1:c.295C>T (ALG3)
ENST00000455059.5:c.465C>T (ALG3) ENSP00000397613.1:p.Gly155=
ENST00000461415.5:n.558C>T (ALG3)
ENST00000477959.1:n.125C>T (ALG3)
ENST00000482048.1:n.574C>T (ALG3)
ENST00000488976.5:n.470C>T (ALG3)
NM_001006941.2:c.441C>T (ALG3) NP_001006942.1:p.Gly147=
NM_005787.5:c.585C>T (ALG3) NP_005778.1:p.Gly195=
NR_024533.1:n.516C>T (ALG3)
NR_024534.1:n.579C>T (ALG3)
XM_011512322.1:c.486C>T (ALG3) XP_011510624.1:p.Gly162=
XM_011512323.1:c.465C>T (ALG3) XP_011510625.1:p.Gly155=
XM_011512323.2:c.465C>T (ALG3) XP_011510625.1:p.Gly155=
XM_024453296.1:c.363C>T (ALG3) XP_024309064.1:p.Gly121=
NM_005787.6:c.585C>T (ALG3) MANE Select NP_005778.1:p.Gly195=