Canonical Allele Identifier: CA2220493669
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47698701G= , CM000678.2:g.47698701G= GRCh38
NC_000016.9:g.47732612G= , CM000678.1:g.47732612G= GRCh37
NC_000016.8:g.46290113G= NCBI36
NG_016598.1:g.242403G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1718+113G= ENSP00000512887.1:n.*1718+113G=
ENST00000699276.1:c.*772+113G= ENSP00000514257.1:n.*772+113G=
ENST00000323584.10:c.3144+113G= MANE Select ENSP00000313504.5:n.3144+113G=
ENST00000299167.12:c.3144+113G= ENSP00000299167.8:n.3144+113G=
ENST00000323584.9:c.3144+113G= ENSP00000313504.5:n.3144+113G=
ENST00000564711.2:c.158+113G=
ENST00000566044.5:c.3123+113G= ENSP00000456729.1:n.3123+113G=
ENST00000566319.2:n.1960+113G=
NM_000293.2:c.3144+113G= NP_000284.1:n.3144+113G=
NM_001031835.2:c.3123+113G= NP_001027005.1:n.3123+113G=
XM_005255983.3:c.3144+113G= XP_005256040.1:n.3144+113G=
XM_005255984.3:c.3123+113G= XP_005256041.1:n.3123+113G=
XM_011523107.1:c.1722+113G= XP_011521409.1:n.1722+113G=
NM_001363837.1:c.3144+113G= NP_001350766.1:n.3144+113G=
XM_005255983.4:c.3144+113G= XP_005256040.1:n.3144+113G=
XM_005255984.4:c.3123+113G= XP_005256041.1:n.3123+113G=
XM_017023282.1:c.2031+113G= XP_016878771.1:n.2031+113G=
XM_017023283.1:c.1722+113G= XP_016878772.1:n.1722+113G=
XM_017023284.1:c.1722+113G= XP_016878773.1:n.1722+113G=
XR_001751913.1:n.3068+113G=
NM_000293.3:c.3144+113G= MANE Select NP_000284.1:n.3144+113G=
NM_001031835.3:c.3123+113G= NP_001027005.1:n.3123+113G=