Canonical Allele Identifier: CA2220492707
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696420T= , CM000678.2:g.47696420T= GRCh38
NC_000016.9:g.47730331T= , CM000678.1:g.47730331T= GRCh37
NC_000016.8:g.46287832T= NCBI36
NG_016598.1:g.240122T=

Transcript Alleles

HGVS Amino-acid change
ENST00000696809.1:c.*1509T= ENSP00000512887.1:n.*1509T=
ENST00000699276.1:c.*563T= ENSP00000514257.1:n.*563T=
ENST00000323584.10:c.2935T= MANE Select ENSP00000313504.5:p.Phe979=
ENST00000299167.12:c.2935T= ENSP00000299167.8:p.Phe979=
ENST00000323584.9:c.2935T= ENSP00000313504.5:p.Phe979=
ENST00000566044.5:c.2914T= ENSP00000456729.1:p.Phe972=
ENST00000566319.2:n.1751T=
NM_000293.2:c.2935T= NP_000284.1:p.Phe979=
NM_001031835.2:c.2914T= NP_001027005.1:p.Phe972=
XM_005255983.3:c.2935T= XP_005256040.1:p.Phe979=
XM_005255984.3:c.2914T= XP_005256041.1:p.Phe972=
XM_011523107.1:c.1513T= XP_011521409.1:p.Phe505=
NM_001363837.1:c.2935T= NP_001350766.1:p.Phe979=
XM_005255983.4:c.2935T= XP_005256040.1:p.Phe979=
XM_005255984.4:c.2914T= XP_005256041.1:p.Phe972=
XM_017023282.1:c.1822T= XP_016878771.1:p.Phe608=
XM_017023283.1:c.1513T= XP_016878772.1:p.Phe505=
XM_017023284.1:c.1513T= XP_016878773.1:p.Phe505=
XR_001751913.1:n.2859T=
NM_000293.3:c.2935T= MANE Select NP_000284.1:p.Phe979=
NM_001031835.3:c.2914T= NP_001027005.1:p.Phe972=