Canonical Allele Identifier: CA408488446
Gene: KIZ HGNC NCBI

Linked Data

ClinVar Variation Id: 1008912
ClinVar RCV Id: RCV001306325
dbSNP Id: rs2032192670

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.21136445G>A , CM000682.2:g.21136445G>A GRCh38
NC_000020.10:g.21117086G>A , CM000682.1:g.21117086G>A GRCh37
NC_000020.9:g.21065086G>A NCBI36
NG_033122.1:g.15463G>A
NG_033122.2:g.15466G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619189.5:c.208G>A MANE Select ENSP00000479542.1:p.Glu70Lys
ENST00000611685.4:c.167-9120G>A
ENST00000612654.1:c.*116G>A ENSP00000480859.1:n.*116G>A
ENST00000616848.4:c.6+4286G>A ENSP00000480612.1:n.6+4286G>A
ENST00000619189.4:c.208G>A ENSP00000479542.1:p.Glu70Lys
ENST00000619574.4:c.169-9120G>A ENSP00000484706.1:n.169-9120G>A
ENST00000620553.2:n.264G>A
ENST00000620891.4:c.6+4286G>A ENSP00000478019.1:n.6+4286G>A
NM_001163022.1:c.6+4286G>A NP_001156494.1:n.6+4286G>A
NM_001163023.1:c.6+4286G>A NP_001156495.1:n.6+4286G>A
NM_001276389.1:c.169-9120G>A NP_001263318.1:n.169-9120G>A
NM_018474.4:c.208G>A NP_060944.3:p.Glu70Lys
XM_011529296.1:c.208G>A XP_011527598.1:p.Glu70Lys
XM_011529297.1:c.208G>A XP_011527599.1:p.Glu70Lys
XM_011529298.1:c.208G>A XP_011527600.1:p.Glu70Lys
XM_011529299.1:c.6+4286G>A XP_011527601.1:n.6+4286G>A
XR_937105.1:n.332G>A
NM_001163022.2:c.6+4286G>A NP_001156494.1:n.6+4286G>A
NM_001163023.2:c.6+4286G>A NP_001156495.1:n.6+4286G>A
NM_001276389.2:c.169-9120G>A NP_001263318.1:n.169-9120G>A
NM_001352434.1:c.208G>A NP_001339363.1:p.Glu70Lys
NM_001352435.1:c.6+4286G>A NP_001339364.1:n.6+4286G>A
NM_001352436.1:c.-179G>A NP_001339365.1:n.-179G>A
NM_018474.5:c.208G>A NP_060944.3:p.Glu70Lys
XM_011529296.3:c.208G>A XP_011527598.1:p.Glu70Lys
XM_011529297.3:c.208G>A XP_011527599.1:p.Glu70Lys
XM_011529299.3:c.6+4286G>A XP_011527601.1:n.6+4286G>A
XM_017027951.2:c.-179G>A XP_016883440.1:n.-179G>A
XM_017027952.2:c.6+4286G>A XP_016883441.1:n.6+4286G>A
XR_001754334.2:n.274G>A
XR_937105.3:n.274G>A
NM_018474.6:c.208G>A MANE Select NP_060944.3:p.Glu70Lys
NM_001163022.3:c.6+4286G>A NP_001156494.1:n.6+4286G>A
NM_001163023.3:c.6+4286G>A NP_001156495.1:n.6+4286G>A
NM_001352434.2:c.208G>A NP_001339363.1:p.Glu70Lys
NM_001352435.2:c.6+4286G>A NP_001339364.1:n.6+4286G>A
NM_001352436.2:c.-179G>A NP_001339365.1:n.-179G>A