Canonical Allele Identifier: CA9784660

Gene: KIZ

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.21161974T>G , CM000682.2:g.21161974T>G	GRCh38
NC_000020.10:g.21142615T>G , CM000682.1:g.21142615T>G	GRCh37
NC_000020.9:g.21090615T>G	NCBI36
NG_033122.1:g.40992T>G
NG_033122.2:g.40995T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619189.5:c.509T>G MANE Select	ENSP00000479542.1:p.Met170Arg
ENST00000611685.4:c.360T>G
ENST00000616679.4:c.173T>G	ENSP00000483065.1:p.Met58Arg
ENST00000616848.4:c.110T>G	ENSP00000480612.1:p.Met37Arg
ENST00000619179.4:c.170T>G	ENSP00000477873.1:p.Met57Arg
ENST00000619189.4:c.509T>G	ENSP00000479542.1:p.Met170Arg
ENST00000619574.4:c.362T>G	ENSP00000484706.1:p.Met121Arg
ENST00000620891.4:c.200T>G	ENSP00000478019.1:p.Met67Arg
NM_001163022.1:c.200T>G	NP_001156494.1:p.Met67Arg
NM_001163023.1:c.110T>G	NP_001156495.1:p.Met37Arg
NM_001276389.1:c.362T>G	NP_001263318.1:p.Met121Arg
NM_018474.4:c.509T>G	NP_060944.3:p.Met170Arg
XM_011529296.1:c.509T>G	XP_011527598.1:p.Met170Arg
XM_011529297.1:c.509T>G	XP_011527599.1:p.Met170Arg
XM_011529298.1:c.509T>G	XP_011527600.1:p.Met170Arg
XM_011529299.1:c.200T>G	XP_011527601.1:p.Met67Arg
XR_937105.1:n.633T>G
XR_937318.1:n.85+822A>C
XR_937319.1:n.85+822A>C
NM_001163022.2:c.200T>G	NP_001156494.1:p.Met67Arg
NM_001163023.2:c.110T>G	NP_001156495.1:p.Met37Arg
NM_001276389.2:c.362T>G	NP_001263318.1:p.Met121Arg
NM_001352434.1:c.509T>G	NP_001339363.1:p.Met170Arg
NM_001352435.1:c.200T>G	NP_001339364.1:p.Met67Arg
NM_001352436.1:c.167T>G	NP_001339365.1:p.Met56Arg
NM_018474.5:c.509T>G	NP_060944.3:p.Met170Arg
XM_011529296.3:c.509T>G	XP_011527598.1:p.Met170Arg
XM_011529297.3:c.509T>G	XP_011527599.1:p.Met170Arg
XM_011529299.3:c.200T>G	XP_011527601.1:p.Met67Arg
XM_017027951.2:c.167T>G	XP_016883440.1:p.Met56Arg
XM_017027952.2:c.200T>G	XP_016883441.1:p.Met67Arg
XR_001754334.2:n.575T>G
XR_937105.3:n.575T>G
NM_018474.6:c.509T>G MANE Select	NP_060944.3:p.Met170Arg
NM_001163022.3:c.200T>G	NP_001156494.1:p.Met67Arg
NM_001163023.3:c.110T>G	NP_001156495.1:p.Met37Arg
NM_001352434.2:c.509T>G	NP_001339363.1:p.Met170Arg
NM_001352435.2:c.200T>G	NP_001339364.1:p.Met67Arg
NM_001352436.2:c.167T>G	NP_001339365.1:p.Met56Arg