Canonical Allele Identifier: CA2220492733

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696486G= , CM000678.2:g.47696486G=	GRCh38
NC_000016.9:g.47730397G= , CM000678.1:g.47730397G=	GRCh37
NC_000016.8:g.46287898G=	NCBI36
NG_016598.1:g.240188G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1575G=	ENSP00000512887.1:n.*1575G=
ENST00000699276.1:c.*629G=	ENSP00000514257.1:n.*629G=
ENST00000323584.10:c.3001G= MANE Select	ENSP00000313504.5:p.Glu1001=
ENST00000299167.12:c.3001G=	ENSP00000299167.8:p.Glu1001=
ENST00000323584.9:c.3001G=	ENSP00000313504.5:p.Glu1001=
ENST00000564711.2:c.15G=
ENST00000566044.5:c.2980G=	ENSP00000456729.1:p.Glu994=
ENST00000566319.2:n.1817G=
NM_000293.2:c.3001G=	NP_000284.1:p.Glu1001=
NM_001031835.2:c.2980G=	NP_001027005.1:p.Glu994=
XM_005255983.3:c.3001G=	XP_005256040.1:p.Glu1001=
XM_005255984.3:c.2980G=	XP_005256041.1:p.Glu994=
XM_011523107.1:c.1579G=	XP_011521409.1:p.Glu527=
NM_001363837.1:c.3001G=	NP_001350766.1:p.Glu1001=
XM_005255983.4:c.3001G=	XP_005256040.1:p.Glu1001=
XM_005255984.4:c.2980G=	XP_005256041.1:p.Glu994=
XM_017023282.1:c.1888G=	XP_016878771.1:p.Glu630=
XM_017023283.1:c.1579G=	XP_016878772.1:p.Glu527=
XM_017023284.1:c.1579G=	XP_016878773.1:p.Glu527=
XR_001751913.1:n.2925G=
NM_000293.3:c.3001G= MANE Select	NP_000284.1:p.Glu1001=
NM_001031835.3:c.2980G=	NP_001027005.1:p.Glu994=