Canonical Allele Identifier: CA2838472777
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47502935T>A , CM000678.2:g.47502935T>A GRCh38
NC_000016.9:g.47536846T>A , CM000678.1:g.47536846T>A GRCh37
NC_000016.8:g.46094347T>A NCBI36
NG_016598.1:g.46637T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.285-56T>A ENSP00000512887.1:n.285-56T>A
ENST00000699276.1:c.285-56T>A ENSP00000514257.1:n.285-56T>A
ENST00000323584.10:c.306-56T>A MANE Select ENSP00000313504.5:n.306-56T>A
ENST00000299167.12:c.306-56T>A ENSP00000299167.8:n.306-56T>A
ENST00000323584.9:c.306-56T>A ENSP00000313504.5:n.306-56T>A
ENST00000563376.5:c.285-56T>A ENSP00000457905.1:n.285-56T>A
ENST00000565424.2:n.96+41509T>A
ENST00000566037.6:c.285-56T>A ENSP00000455664.2:n.285-56T>A
ENST00000566044.5:c.285-56T>A ENSP00000456729.1:n.285-56T>A
ENST00000567402.5:n.321-56T>A
ENST00000570047.2:c.140-56T>A
NM_000293.2:c.306-56T>A NP_000284.1:n.306-56T>A
NM_001031835.2:c.285-56T>A NP_001027005.1:n.285-56T>A
XM_005255983.3:c.306-56T>A XP_005256040.1:n.306-56T>A
XM_005255984.3:c.285-56T>A XP_005256041.1:n.285-56T>A
XM_011523106.1:c.306-56T>A XP_011521408.1:n.306-56T>A
NM_001363837.1:c.306-56T>A NP_001350766.1:n.306-56T>A
XM_005255983.4:c.306-56T>A XP_005256040.1:n.306-56T>A
XM_005255984.4:c.285-56T>A XP_005256041.1:n.285-56T>A
XM_017023283.1:c.-1200-56T>A XP_016878772.1:n.-1200-56T>A
XM_017023284.1:c.-1200-56T>A XP_016878773.1:n.-1200-56T>A
XR_001751913.1:n.321-56T>A
NM_000293.3:c.306-56T>A MANE Select NP_000284.1:n.306-56T>A
NM_001031835.3:c.285-56T>A NP_001027005.1:n.285-56T>A