Canonical Allele Identifier: CA341945514
Gene: POGZ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151405916T>G , CM000663.2:g.151405916T>G GRCh38
NC_000001.10:g.151378392T>G , CM000663.1:g.151378392T>G GRCh37
NC_000001.9:g.149645016T>G NCBI36
NG_046601.1:g.58550A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000710270.1:c.3167A>C ENSP00000518163.1:p.Glu1056Ala
ENST00000392723.6:c.2960A>C ENSP00000376484.1:p.Glu987Ala
ENST00000439756.2:c.3119A>C ENSP00000390156.2:p.Glu1040Ala
ENST00000703168.1:c.3140A>C ENSP00000515214.1:p.Glu1047Ala
ENST00000271715.7:c.3119A>C MANE Select ENSP00000271715.2:p.Glu1040Ala
ENST00000271715.6:c.3119A>C ENSP00000271715.2:p.Glu1040Ala
ENST00000358476.7:n.3267A>C
ENST00000368863.6:c.2834A>C ENSP00000357856.2:p.Glu945Ala
ENST00000392723.5:c.2960A>C ENSP00000376484.1:p.Glu987Ala
ENST00000409503.5:c.3092A>C ENSP00000386836.1:p.Glu1031Ala
ENST00000491586.5:c.2987A>C ENSP00000418408.1:p.Glu996Ala
ENST00000531094.5:c.2933A>C ENSP00000431259.1:p.Glu978Ala
NM_001194937.1:c.3092A>C NP_001181866.1:p.Glu1031Ala
NM_001194938.1:c.2933A>C NP_001181867.1:p.Glu978Ala
NM_015100.3:c.3119A>C NP_055915.2:p.Glu1040Ala
NM_145796.3:c.2834A>C NP_665739.3:p.Glu945Ala
NM_207171.2:c.2960A>C NP_997054.1:p.Glu987Ala
XM_005244999.1:c.3119A>C XP_005245056.1:p.Glu1040Ala
XM_005245000.3:c.3119A>C XP_005245057.1:p.Glu1040Ala
XM_005245001.1:c.3119A>C XP_005245058.1:p.Glu1040Ala
XM_005245005.1:c.2960A>C XP_005245062.1:p.Glu987Ala
XM_005245006.3:c.2960A>C XP_005245063.1:p.Glu987Ala
XM_011509330.1:c.3011A>C XP_011507632.1:p.Glu1004Ala
XM_011509331.1:c.2762A>C XP_011507633.1:p.Glu921Ala
XM_005244999.3:c.3119A>C XP_005245056.1:p.Glu1040Ala
XM_005245000.4:c.3119A>C XP_005245057.1:p.Glu1040Ala
XM_005245001.2:c.3119A>C XP_005245058.1:p.Glu1040Ala
XM_005245005.2:c.2960A>C XP_005245062.1:p.Glu987Ala
XM_005245006.5:c.2960A>C XP_005245063.1:p.Glu987Ala
XM_017000744.1:c.3140A>C XP_016856233.1:p.Glu1047Ala
XM_017000745.2:c.3092A>C XP_016856234.1:p.Glu1031Ala
XM_017000746.1:c.3092A>C XP_016856235.1:p.Glu1031Ala
XM_017000748.1:c.2960A>C XP_016856237.1:p.Glu987Ala
XM_017000749.1:c.2960A>C XP_016856238.1:p.Glu987Ala
XM_024454305.1:c.2993A>C XP_024310073.1:p.Glu998Ala
XM_024454306.1:c.1919A>C XP_024310074.1:p.Glu640Ala
XR_002959801.1:n.2974A>C
NM_015100.4:c.3119A>C MANE Select NP_055915.2:p.Glu1040Ala
NM_001194937.2:c.3092A>C NP_001181866.1:p.Glu1031Ala
NM_001194938.2:c.2933A>C NP_001181867.1:p.Glu978Ala
NM_145796.4:c.2834A>C NP_665739.3:p.Glu945Ala