Canonical Allele Identifier: CA2220492723
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696453A= , CM000678.2:g.47696453A= GRCh38
NC_000016.9:g.47730364A= , CM000678.1:g.47730364A= GRCh37
NC_000016.8:g.46287865A= NCBI36
NG_016598.1:g.240155A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1542A= ENSP00000512887.1:n.*1542A=
ENST00000699276.1:c.*596A= ENSP00000514257.1:n.*596A=
ENST00000323584.10:c.2968A= MANE Select ENSP00000313504.5:p.Ile990=
ENST00000299167.12:c.2968A= ENSP00000299167.8:p.Ile990=
ENST00000323584.9:c.2968A= ENSP00000313504.5:p.Ile990=
ENST00000566044.5:c.2947A= ENSP00000456729.1:p.Ile983=
ENST00000566319.2:n.1784A=
NM_000293.2:c.2968A= NP_000284.1:p.Ile990=
NM_001031835.2:c.2947A= NP_001027005.1:p.Ile983=
XM_005255983.3:c.2968A= XP_005256040.1:p.Ile990=
XM_005255984.3:c.2947A= XP_005256041.1:p.Ile983=
XM_011523107.1:c.1546A= XP_011521409.1:p.Ile516=
NM_001363837.1:c.2968A= NP_001350766.1:p.Ile990=
XM_005255983.4:c.2968A= XP_005256040.1:p.Ile990=
XM_005255984.4:c.2947A= XP_005256041.1:p.Ile983=
XM_017023282.1:c.1855A= XP_016878771.1:p.Ile619=
XM_017023283.1:c.1546A= XP_016878772.1:p.Ile516=
XM_017023284.1:c.1546A= XP_016878773.1:p.Ile516=
XR_001751913.1:n.2892A=
NM_000293.3:c.2968A= MANE Select NP_000284.1:p.Ile990=
NM_001031835.3:c.2947A= NP_001027005.1:p.Ile983=