Canonical Allele Identifier: CA2220492709

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696422C= , CM000678.2:g.47696422C=	GRCh38
NC_000016.9:g.47730333C= , CM000678.1:g.47730333C=	GRCh37
NC_000016.8:g.46287834C=	NCBI36
NG_016598.1:g.240124C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1511C=	ENSP00000512887.1:n.*1511C=
ENST00000699276.1:c.*565C=	ENSP00000514257.1:n.*565C=
ENST00000323584.10:c.2937C= MANE Select	ENSP00000313504.5:p.Phe979=
ENST00000299167.12:c.2937C=	ENSP00000299167.8:p.Phe979=
ENST00000323584.9:c.2937C=	ENSP00000313504.5:p.Phe979=
ENST00000566044.5:c.2916C=	ENSP00000456729.1:p.Phe972=
ENST00000566319.2:n.1753C=
NM_000293.2:c.2937C=	NP_000284.1:p.Phe979=
NM_001031835.2:c.2916C=	NP_001027005.1:p.Phe972=
XM_005255983.3:c.2937C=	XP_005256040.1:p.Phe979=
XM_005255984.3:c.2916C=	XP_005256041.1:p.Phe972=
XM_011523107.1:c.1515C=	XP_011521409.1:p.Phe505=
NM_001363837.1:c.2937C=	NP_001350766.1:p.Phe979=
XM_005255983.4:c.2937C=	XP_005256040.1:p.Phe979=
XM_005255984.4:c.2916C=	XP_005256041.1:p.Phe972=
XM_017023282.1:c.1824C=	XP_016878771.1:p.Phe608=
XM_017023283.1:c.1515C=	XP_016878772.1:p.Phe505=
XM_017023284.1:c.1515C=	XP_016878773.1:p.Phe505=
XR_001751913.1:n.2861C=
NM_000293.3:c.2937C= MANE Select	NP_000284.1:p.Phe979=
NM_001031835.3:c.2916C=	NP_001027005.1:p.Phe972=