Canonical Allele Identifier: CA2354742791
Gene: KIZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.21136424C= , CM000682.2:g.21136424C= GRCh38
NC_000020.10:g.21117065C= , CM000682.1:g.21117065C= GRCh37
NC_000020.9:g.21065065C= NCBI36
NG_033122.1:g.15442C=
NG_033122.2:g.15445C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000619189.5:c.187C= MANE Select ENSP00000479542.1:p.Leu63=
ENST00000611685.4:c.167-9141C=
ENST00000612654.1:c.*95C= ENSP00000480859.1:n.*95C=
ENST00000616848.4:c.6+4265C= ENSP00000480612.1:n.6+4265C=
ENST00000619189.4:c.187C= ENSP00000479542.1:p.Leu63=
ENST00000619574.4:c.169-9141C= ENSP00000484706.1:n.169-9141C=
ENST00000620553.2:n.243C=
ENST00000620891.4:c.6+4265C= ENSP00000478019.1:n.6+4265C=
NM_001163022.1:c.6+4265C= NP_001156494.1:n.6+4265C=
NM_001163023.1:c.6+4265C= NP_001156495.1:n.6+4265C=
NM_001276389.1:c.169-9141C= NP_001263318.1:n.169-9141C=
NM_018474.4:c.187C= NP_060944.3:p.Leu63=
XM_011529296.1:c.187C= XP_011527598.1:p.Leu63=
XM_011529297.1:c.187C= XP_011527599.1:p.Leu63=
XM_011529298.1:c.187C= XP_011527600.1:p.Leu63=
XM_011529299.1:c.6+4265C= XP_011527601.1:n.6+4265C=
XR_937105.1:n.311C=
NM_001163022.2:c.6+4265C= NP_001156494.1:n.6+4265C=
NM_001163023.2:c.6+4265C= NP_001156495.1:n.6+4265C=
NM_001276389.2:c.169-9141C= NP_001263318.1:n.169-9141C=
NM_001352434.1:c.187C= NP_001339363.1:p.Leu63=
NM_001352435.1:c.6+4265C= NP_001339364.1:n.6+4265C=
NM_001352436.1:c.-200C= NP_001339365.1:n.-200C=
NM_018474.5:c.187C= NP_060944.3:p.Leu63=
XM_011529296.3:c.187C= XP_011527598.1:p.Leu63=
XM_011529297.3:c.187C= XP_011527599.1:p.Leu63=
XM_011529299.3:c.6+4265C= XP_011527601.1:n.6+4265C=
XM_017027951.2:c.-200C= XP_016883440.1:n.-200C=
XM_017027952.2:c.6+4265C= XP_016883441.1:n.6+4265C=
XR_001754334.2:n.253C=
XR_937105.3:n.253C=
NM_018474.6:c.187C= MANE Select NP_060944.3:p.Leu63=
NM_001163022.3:c.6+4265C= NP_001156494.1:n.6+4265C=
NM_001163023.3:c.6+4265C= NP_001156495.1:n.6+4265C=
NM_001352434.2:c.187C= NP_001339363.1:p.Leu63=
NM_001352435.2:c.6+4265C= NP_001339364.1:n.6+4265C=
NM_001352436.2:c.-200C= NP_001339365.1:n.-200C=