Canonical Allele Identifier: CA656285225
Gene: PHKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47596332A>T , CM000678.2:g.47596332A>T GRCh38
NC_000016.9:g.47630243A>T , CM000678.1:g.47630243A>T GRCh37
NC_000016.8:g.46187744A>T NCBI36
NG_016598.1:g.140034A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.1184-41A>T ENSP00000512887.1:n.1184-41A>T
ENST00000699276.1:c.1184-41A>T ENSP00000514257.1:n.1184-41A>T
ENST00000323584.10:c.1205-41A>T MANE Select ENSP00000313504.5:n.1205-41A>T
ENST00000299167.12:c.1205-41A>T ENSP00000299167.8:n.1205-41A>T
ENST00000323584.9:c.1205-41A>T ENSP00000313504.5:n.1205-41A>T
ENST00000566044.5:c.1184-41A>T ENSP00000456729.1:n.1184-41A>T
ENST00000566436.1:n.66-41A>T
NM_000293.2:c.1205-41A>T NP_000284.1:n.1205-41A>T
NM_001031835.2:c.1184-41A>T NP_001027005.1:n.1184-41A>T
XM_005255983.3:c.1205-41A>T XP_005256040.1:n.1205-41A>T
XM_005255984.3:c.1184-41A>T XP_005256041.1:n.1184-41A>T
XM_011523106.1:c.1205-41A>T XP_011521408.1:n.1205-41A>T
NM_001363837.1:c.1205-41A>T NP_001350766.1:n.1205-41A>T
XM_005255983.4:c.1205-41A>T XP_005256040.1:n.1205-41A>T
XM_005255984.4:c.1184-41A>T XP_005256041.1:n.1184-41A>T
XM_017023282.1:c.92-41A>T XP_016878771.1:n.92-41A>T
XM_017023283.1:c.-301-41A>T XP_016878772.1:n.-301-41A>T
XM_017023284.1:c.-301-41A>T XP_016878773.1:n.-301-41A>T
XR_001751913.1:n.1220-41A>T
NM_000293.3:c.1205-41A>T MANE Select NP_000284.1:n.1205-41A>T
NM_001031835.3:c.1184-41A>T NP_001027005.1:n.1184-41A>T