Canonical Allele Identifier: CA1472827393
Community Standard Title: NM_133636.5(HELQ):c.916G= (p.Val306=)
Gene: HELQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.83453327C= , CM000666.2:g.83453327C= GRCh38
NC_000004.11:g.84374480C= , CM000666.1:g.84374480C= GRCh37
NC_000004.10:g.84593504C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_133636.5:c.916G= MANE Select NP_598375.3:p.Val306=
ENST00000295488.8:c.916G= MANE Select ENSP00000295488.3:p.Val306=
NM_001297755.1:c.916G= NP_001284684.1:p.Val306=
NM_001297755.2:c.916G= NP_001284684.2:p.Val306=
NM_001297756.1:c.-589G= NP_001284685.1:n.-589G=
NM_001297756.2:c.-589G= NP_001284685.1:n.-589G=
NM_001297757.1:c.-619G= NP_001284686.1:n.-619G=
NM_001297757.2:c.-619G= NP_001284686.1:n.-619G=
NM_001297758.1:c.805G= NP_001284687.1:p.Val269=
NM_001297758.2:c.805G= NP_001284687.2:p.Val269=
NM_001297759.1:c.916G= NP_001284688.1:p.Val306=
NM_001297759.2:c.916G= NP_001284688.2:p.Val306=
NM_133636.3:c.916G= NP_598375.2:p.Val306=
NM_133636.4:c.916G= NP_598375.2:p.Val306=
NR_123737.1:n.1234G=
ENST00000295488.7:c.916G= ENSP00000295488.3:p.Val306=
ENST00000508591.5:c.916G= ENSP00000424186.1:p.Val306=
ENST00000510985.1:c.916G= ENSP00000424539.1:p.Val306=
XM_005262711.1:c.805G= XP_005262768.1:p.Val269=
XM_005262713.1:c.598G= XP_005262770.1:p.Val200=
XM_005262713.3:c.598G= XP_005262770.1:p.Val200=
XM_006714076.1:c.916G= XP_006714139.1:p.Val306=
XM_006714076.3:c.916G= XP_006714139.1:p.Val306=
XM_011531579.1:c.-1574G= XP_011529881.1:n.-1574G=
XM_011531580.1:c.916G= XP_011529882.1:p.Val306=
XM_011531580.3:c.916G= XP_011529882.1:p.Val306=
XM_017007679.1:c.805G= XP_016863168.1:p.Val269=
XM_017007680.2:c.598G= XP_016863169.1:p.Val200=
XM_017007681.2:c.916G= XP_016863170.1:p.Val306=
XM_017007682.1:c.-589G= XP_016863171.1:n.-589G=
XM_024453883.1:c.598G= XP_024309651.1:p.Val200=
XM_024453884.1:c.-388G= XP_024309652.1:n.-388G=
XR_938683.1:n.1095G=
XR_938683.3:n.1095G=
XR_938684.1:n.1095G=