Canonical Allele Identifier: CA2633049788
Gene: PHKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696229G>A , CM000678.2:g.47696229G>A GRCh38
NC_000016.9:g.47730140G>A , CM000678.1:g.47730140G>A GRCh37
NC_000016.8:g.46287641G>A NCBI36
NG_016598.1:g.239931G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1470-152G>A ENSP00000512887.1:n.*1470-152G>A
ENST00000699276.1:c.*524-152G>A ENSP00000514257.1:n.*524-152G>A
ENST00000323584.10:c.2896-152G>A MANE Select ENSP00000313504.5:n.2896-152G>A
ENST00000299167.12:c.2896-152G>A ENSP00000299167.8:n.2896-152G>A
ENST00000323584.9:c.2896-152G>A ENSP00000313504.5:n.2896-152G>A
ENST00000566044.5:c.2875-152G>A ENSP00000456729.1:n.2875-152G>A
ENST00000566319.2:n.1712-152G>A
NM_000293.2:c.2896-152G>A NP_000284.1:n.2896-152G>A
NM_001031835.2:c.2875-152G>A NP_001027005.1:n.2875-152G>A
XM_005255983.3:c.2896-152G>A XP_005256040.1:n.2896-152G>A
XM_005255984.3:c.2875-152G>A XP_005256041.1:n.2875-152G>A
XM_011523107.1:c.1474-152G>A XP_011521409.1:n.1474-152G>A
NM_001363837.1:c.2896-152G>A NP_001350766.1:n.2896-152G>A
XM_005255983.4:c.2896-152G>A XP_005256040.1:n.2896-152G>A
XM_005255984.4:c.2875-152G>A XP_005256041.1:n.2875-152G>A
XM_017023282.1:c.1783-152G>A XP_016878771.1:n.1783-152G>A
XM_017023283.1:c.1474-152G>A XP_016878772.1:n.1474-152G>A
XM_017023284.1:c.1474-152G>A XP_016878773.1:n.1474-152G>A
XR_001751913.1:n.2820-152G>A
NM_000293.3:c.2896-152G>A MANE Select NP_000284.1:n.2896-152G>A
NM_001031835.3:c.2875-152G>A NP_001027005.1:n.2875-152G>A