Canonical Allele Identifier: CA9784695

Gene: KIZ

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.21162172T>C , CM000682.2:g.21162172T>C	GRCh38
NC_000020.10:g.21142813T>C , CM000682.1:g.21142813T>C	GRCh37
NC_000020.9:g.21090813T>C	NCBI36
NG_033122.1:g.41190T>C
NG_033122.2:g.41193T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018474.6:c.707T>C MANE Select	NP_060944.3:p.Met236Thr
ENST00000619189.5:c.707T>C MANE Select	ENSP00000479542.1:p.Met236Thr
NM_001163022.1:c.398T>C	NP_001156494.1:p.Met133Thr
NM_001163022.2:c.398T>C	NP_001156494.1:p.Met133Thr
NM_001163022.3:c.398T>C	NP_001156494.1:p.Met133Thr
NM_001163023.1:c.308T>C	NP_001156495.1:p.Met103Thr
NM_001163023.2:c.308T>C	NP_001156495.1:p.Met103Thr
NM_001163023.3:c.308T>C	NP_001156495.1:p.Met103Thr
NM_001276389.1:c.560T>C	NP_001263318.1:p.Met187Thr
NM_001276389.2:c.560T>C	NP_001263318.1:p.Met187Thr
NM_001352434.1:c.707T>C	NP_001339363.1:p.Met236Thr
NM_001352434.2:c.707T>C	NP_001339363.1:p.Met236Thr
NM_001352435.1:c.398T>C	NP_001339364.1:p.Met133Thr
NM_001352435.2:c.398T>C	NP_001339364.1:p.Met133Thr
NM_001352436.1:c.365T>C	NP_001339365.1:p.Met122Thr
NM_001352436.2:c.365T>C	NP_001339365.1:p.Met122Thr
NM_018474.4:c.707T>C	NP_060944.3:p.Met236Thr
NM_018474.5:c.707T>C	NP_060944.3:p.Met236Thr
ENST00000611685.4:c.558T>C
ENST00000616679.4:c.371T>C	ENSP00000483065.1:p.Met124Thr
ENST00000616848.4:c.308T>C	ENSP00000480612.1:p.Met103Thr
ENST00000619179.4:c.368T>C	ENSP00000477873.1:p.Met123Thr
ENST00000619189.4:c.707T>C	ENSP00000479542.1:p.Met236Thr
ENST00000619574.4:c.560T>C	ENSP00000484706.1:p.Met187Thr
ENST00000620891.4:c.398T>C	ENSP00000478019.1:p.Met133Thr
ENST00000621366.1:c.90T>C
XM_011529296.1:c.707T>C	XP_011527598.1:p.Met236Thr
XM_011529296.3:c.707T>C	XP_011527598.1:p.Met236Thr
XM_011529297.1:c.707T>C	XP_011527599.1:p.Met236Thr
XM_011529297.3:c.707T>C	XP_011527599.1:p.Met236Thr
XM_011529298.1:c.707T>C	XP_011527600.1:p.Met236Thr
XM_011529299.1:c.398T>C	XP_011527601.1:p.Met133Thr
XM_011529299.3:c.398T>C	XP_011527601.1:p.Met133Thr
XM_017027951.2:c.365T>C	XP_016883440.1:p.Met122Thr
XM_017027952.2:c.398T>C	XP_016883441.1:p.Met133Thr
XR_001754334.2:n.773T>C
XR_937105.1:n.831T>C
XR_937105.3:n.773T>C
XR_937318.1:n.85+624A>G
XR_937319.1:n.85+624A>G