Canonical Allele Identifier: CA2220493639
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47698647C= , CM000678.2:g.47698647C= GRCh38
NC_000016.9:g.47732558C= , CM000678.1:g.47732558C= GRCh37
NC_000016.8:g.46290059C= NCBI36
NG_016598.1:g.242349C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1718+59C= ENSP00000512887.1:n.*1718+59C=
ENST00000699276.1:c.*772+59C= ENSP00000514257.1:n.*772+59C=
ENST00000323584.10:c.3144+59C= MANE Select ENSP00000313504.5:n.3144+59C=
ENST00000299167.12:c.3144+59C= ENSP00000299167.8:n.3144+59C=
ENST00000323584.9:c.3144+59C= ENSP00000313504.5:n.3144+59C=
ENST00000564711.2:c.158+59C=
ENST00000566044.5:c.3123+59C= ENSP00000456729.1:n.3123+59C=
ENST00000566319.2:n.1960+59C=
NM_000293.2:c.3144+59C= NP_000284.1:n.3144+59C=
NM_001031835.2:c.3123+59C= NP_001027005.1:n.3123+59C=
XM_005255983.3:c.3144+59C= XP_005256040.1:n.3144+59C=
XM_005255984.3:c.3123+59C= XP_005256041.1:n.3123+59C=
XM_011523107.1:c.1722+59C= XP_011521409.1:n.1722+59C=
NM_001363837.1:c.3144+59C= NP_001350766.1:n.3144+59C=
XM_005255983.4:c.3144+59C= XP_005256040.1:n.3144+59C=
XM_005255984.4:c.3123+59C= XP_005256041.1:n.3123+59C=
XM_017023282.1:c.2031+59C= XP_016878771.1:n.2031+59C=
XM_017023283.1:c.1722+59C= XP_016878772.1:n.1722+59C=
XM_017023284.1:c.1722+59C= XP_016878773.1:n.1722+59C=
XR_001751913.1:n.3068+59C=
NM_000293.3:c.3144+59C= MANE Select NP_000284.1:n.3144+59C=
NM_001031835.3:c.3123+59C= NP_001027005.1:n.3123+59C=