Canonical Allele Identifier: CA2220398802
Community Standard Title: NM_000293.3(PHKB):c.555G= (p.Met185=)
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47515562G= , CM000678.2:g.47515562G= GRCh38
NC_000016.9:g.47549473G= , CM000678.1:g.47549473G= GRCh37
NC_000016.8:g.46106974G= NCBI36
NG_016598.1:g.59264G=

Transcript Alleles

HGVS Amino-acid Change
NM_000293.3:c.555G= MANE Select NP_000284.1:p.Met185=
ENST00000323584.10:c.555G= MANE Select ENSP00000313504.5:p.Met185=
NM_000293.2:c.555G= NP_000284.1:p.Met185=
NM_001031835.2:c.534G= NP_001027005.1:p.Met178=
NM_001031835.3:c.534G= NP_001027005.1:p.Met178=
NM_001363837.1:c.555G= NP_001350766.1:p.Met185=
ENST00000299167.12:c.555G= ENSP00000299167.8:p.Met185=
ENST00000323584.9:c.555G= ENSP00000313504.5:p.Met185=
ENST00000565424.2:n.97-31871G=
ENST00000566037.6:c.534G= ENSP00000455664.2:p.Met178=
ENST00000566044.5:c.534G= ENSP00000456729.1:p.Met178=
ENST00000567402.5:n.570G=
ENST00000570047.2:c.389G=
ENST00000696809.1:c.534G= ENSP00000512887.1:p.Met178=
ENST00000699276.1:c.534G= ENSP00000514257.1:p.Met178=
XM_005255983.3:c.555G= XP_005256040.1:p.Met185=
XM_005255983.4:c.555G= XP_005256040.1:p.Met185=
XM_005255984.3:c.534G= XP_005256041.1:p.Met178=
XM_005255984.4:c.534G= XP_005256041.1:p.Met178=
XM_011523106.1:c.555G= XP_011521408.1:p.Met185=
XM_017023283.1:c.-951G= XP_016878772.1:n.-951G=
XM_017023284.1:c.-951G= XP_016878773.1:n.-951G=
XR_001751913.1:n.570G=