Canonical Allele Identifier: CA2220493553
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47698512A= , CM000678.2:g.47698512A= GRCh38
NC_000016.9:g.47732423A= , CM000678.1:g.47732423A= GRCh37
NC_000016.8:g.46289924A= NCBI36
NG_016598.1:g.242214A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1642A= ENSP00000512887.1:n.*1642A=
ENST00000699276.1:c.*696A= ENSP00000514257.1:n.*696A=
ENST00000323584.10:c.3068A= MANE Select ENSP00000313504.5:p.Asp1023=
ENST00000299167.12:c.3068A= ENSP00000299167.8:p.Asp1023=
ENST00000323584.9:c.3068A= ENSP00000313504.5:p.Asp1023=
ENST00000564711.2:c.82A=
ENST00000566044.5:c.3047A= ENSP00000456729.1:p.Asp1016=
ENST00000566319.2:n.1884A=
NM_000293.2:c.3068A= NP_000284.1:p.Asp1023=
NM_001031835.2:c.3047A= NP_001027005.1:p.Asp1016=
XM_005255983.3:c.3068A= XP_005256040.1:p.Asp1023=
XM_005255984.3:c.3047A= XP_005256041.1:p.Asp1016=
XM_011523107.1:c.1646A= XP_011521409.1:p.Asp549=
NM_001363837.1:c.3068A= NP_001350766.1:p.Asp1023=
XM_005255983.4:c.3068A= XP_005256040.1:p.Asp1023=
XM_005255984.4:c.3047A= XP_005256041.1:p.Asp1016=
XM_017023282.1:c.1955A= XP_016878771.1:p.Asp652=
XM_017023283.1:c.1646A= XP_016878772.1:p.Asp549=
XM_017023284.1:c.1646A= XP_016878773.1:p.Asp549=
XR_001751913.1:n.2992A=
NM_000293.3:c.3068A= MANE Select NP_000284.1:p.Asp1023=
NM_001031835.3:c.3047A= NP_001027005.1:p.Asp1016=