Canonical Allele Identifier: CA2220476062
Community Standard Title: NM_000293.3(PHKB):c.1546C= (p.Gln516=)
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47641630C= , CM000678.2:g.47641630C= GRCh38
NC_000016.9:g.47675541C= , CM000678.1:g.47675541C= GRCh37
NC_000016.8:g.46233042C= NCBI36
NG_016598.1:g.185332C=

Transcript Alleles

HGVS Amino-acid Change
NM_000293.3:c.1546C= MANE Select NP_000284.1:p.Gln516=
ENST00000323584.10:c.1546C= MANE Select ENSP00000313504.5:p.Gln516=
NM_000293.2:c.1546C= NP_000284.1:p.Gln516=
NM_001031835.2:c.1525C= NP_001027005.1:p.Gln509=
NM_001031835.3:c.1525C= NP_001027005.1:p.Gln509=
NM_001363837.1:c.1546C= NP_001350766.1:p.Gln516=
ENST00000299167.12:c.1546C= ENSP00000299167.8:p.Gln516=
ENST00000323584.9:c.1546C= ENSP00000313504.5:p.Gln516=
ENST00000566044.5:c.1525C= ENSP00000456729.1:p.Gln509=
ENST00000696809.1:c.*120C= ENSP00000512887.1:n.*120C=
ENST00000699276.1:c.1525C= ENSP00000514257.1:p.Gln509=
XM_005255983.3:c.1546C= XP_005256040.1:p.Gln516=
XM_005255983.4:c.1546C= XP_005256040.1:p.Gln516=
XM_005255984.3:c.1525C= XP_005256041.1:p.Gln509=
XM_005255984.4:c.1525C= XP_005256041.1:p.Gln509=
XM_011523106.1:c.1546C= XP_011521408.1:p.Gln516=
XM_011523107.1:c.124C= XP_011521409.1:p.Gln42=
XM_017023282.1:c.433C= XP_016878771.1:p.Gln145=
XM_017023283.1:c.124C= XP_016878772.1:p.Gln42=
XM_017023284.1:c.124C= XP_016878773.1:p.Gln42=
XR_001751913.1:n.1561C=