Canonical Allele Identifier: CA2220492729
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696471A= , CM000678.2:g.47696471A= GRCh38
NC_000016.9:g.47730382A= , CM000678.1:g.47730382A= GRCh37
NC_000016.8:g.46287883A= NCBI36
NG_016598.1:g.240173A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1560A= ENSP00000512887.1:n.*1560A=
ENST00000699276.1:c.*614A= ENSP00000514257.1:n.*614A=
ENST00000323584.10:c.2986A= MANE Select ENSP00000313504.5:p.Arg996=
ENST00000299167.12:c.2986A= ENSP00000299167.8:p.Arg996=
ENST00000323584.9:c.2986A= ENSP00000313504.5:p.Arg996=
ENST00000566044.5:c.2965A= ENSP00000456729.1:p.Arg989=
ENST00000566319.2:n.1802A=
NM_000293.2:c.2986A= NP_000284.1:p.Arg996=
NM_001031835.2:c.2965A= NP_001027005.1:p.Arg989=
XM_005255983.3:c.2986A= XP_005256040.1:p.Arg996=
XM_005255984.3:c.2965A= XP_005256041.1:p.Arg989=
XM_011523107.1:c.1564A= XP_011521409.1:p.Arg522=
NM_001363837.1:c.2986A= NP_001350766.1:p.Arg996=
XM_005255983.4:c.2986A= XP_005256040.1:p.Arg996=
XM_005255984.4:c.2965A= XP_005256041.1:p.Arg989=
XM_017023282.1:c.1873A= XP_016878771.1:p.Arg625=
XM_017023283.1:c.1564A= XP_016878772.1:p.Arg522=
XM_017023284.1:c.1564A= XP_016878773.1:p.Arg522=
XR_001751913.1:n.2910A=
NM_000293.3:c.2986A= MANE Select NP_000284.1:p.Arg996=
NM_001031835.3:c.2965A= NP_001027005.1:p.Arg989=