Canonical Allele Identifier: CA341981978
Gene: POGZ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151430686G>A , CM000663.2:g.151430686G>A GRCh38
NC_000001.10:g.151403162G>A , CM000663.1:g.151403162G>A GRCh37
NC_000001.9:g.149669786G>A NCBI36
NG_046601.1:g.33780C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710270.1:c.487C>T ENSP00000518163.1:p.Pro163Ser
ENST00000392723.6:c.280C>T ENSP00000376484.1:p.Pro94Ser
ENST00000439756.2:c.439C>T ENSP00000390156.2:p.Pro147Ser
ENST00000703168.1:c.460C>T ENSP00000515214.1:p.Pro154Ser
ENST00000703169.1:c.439C>T ENSP00000515215.1:p.Pro147Ser
ENST00000271715.7:c.439C>T MANE Select ENSP00000271715.2:p.Pro147Ser
ENST00000271715.6:c.439C>T ENSP00000271715.2:p.Pro147Ser
ENST00000358476.7:n.308C>T
ENST00000368863.6:c.284-2273C>T ENSP00000357856.2:n.284-2273C>T
ENST00000392723.5:c.280C>T ENSP00000376484.1:p.Pro94Ser
ENST00000409503.5:c.439C>T ENSP00000386836.1:p.Pro147Ser
ENST00000467287.5:n.317C>T
ENST00000485040.5:n.468C>T
ENST00000491586.5:c.280C>T ENSP00000418408.1:p.Pro94Ser
ENST00000531094.5:c.280C>T ENSP00000431259.1:p.Pro94Ser
ENST00000533461.5:c.439C>T ENSP00000433934.1:p.Pro147Ser
NM_001194937.1:c.439C>T NP_001181866.1:p.Pro147Ser
NM_001194938.1:c.280C>T NP_001181867.1:p.Pro94Ser
NM_015100.3:c.439C>T NP_055915.2:p.Pro147Ser
NM_145796.3:c.284-2273C>T NP_665739.3:n.284-2273C>T
NM_207171.2:c.280C>T NP_997054.1:p.Pro94Ser
XM_005244999.1:c.439C>T XP_005245056.1:p.Pro147Ser
XM_005245000.3:c.439C>T XP_005245057.1:p.Pro147Ser
XM_005245001.1:c.439C>T XP_005245058.1:p.Pro147Ser
XM_005245005.1:c.280C>T XP_005245062.1:p.Pro94Ser
XM_005245006.3:c.280C>T XP_005245063.1:p.Pro94Ser
XM_011509330.1:c.331C>T XP_011507632.1:p.Pro111Ser
XM_011509331.1:c.82C>T XP_011507633.1:p.Pro28Ser
XR_921760.1:n.440C>T
XM_005244999.3:c.439C>T XP_005245056.1:p.Pro147Ser
XM_005245000.4:c.439C>T XP_005245057.1:p.Pro147Ser
XM_005245001.2:c.439C>T XP_005245058.1:p.Pro147Ser
XM_005245005.2:c.280C>T XP_005245062.1:p.Pro94Ser
XM_005245006.5:c.280C>T XP_005245063.1:p.Pro94Ser
XM_017000744.1:c.460C>T XP_016856233.1:p.Pro154Ser
XM_017000745.2:c.439C>T XP_016856234.1:p.Pro147Ser
XM_017000746.1:c.439C>T XP_016856235.1:p.Pro147Ser
XM_017000748.1:c.280C>T XP_016856237.1:p.Pro94Ser
XM_017000749.1:c.280C>T XP_016856238.1:p.Pro94Ser
XM_024454305.1:c.460C>T XP_024310073.1:p.Pro154Ser
XM_024454306.1:c.-1844C>T XP_024310074.1:n.-1844C>T
XR_002959801.1:n.467C>T
NM_015100.4:c.439C>T MANE Select NP_055915.2:p.Pro147Ser
NM_001194937.2:c.439C>T NP_001181866.1:p.Pro147Ser
NM_001194938.2:c.280C>T NP_001181867.1:p.Pro94Ser
NM_145796.4:c.284-2273C>T NP_665739.3:n.284-2273C>T