Canonical Allele Identifier: CA2220492695

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696390C= , CM000678.2:g.47696390C=	GRCh38
NC_000016.9:g.47730301C= , CM000678.1:g.47730301C=	GRCh37
NC_000016.8:g.46287802C=	NCBI36
NG_016598.1:g.240092C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1479C=	ENSP00000512887.1:n.*1479C=
ENST00000699276.1:c.*533C=	ENSP00000514257.1:n.*533C=
ENST00000323584.10:c.2905C= MANE Select	ENSP00000313504.5:p.Leu969=
ENST00000299167.12:c.2905C=	ENSP00000299167.8:p.Leu969=
ENST00000323584.9:c.2905C=	ENSP00000313504.5:p.Leu969=
ENST00000566044.5:c.2884C=	ENSP00000456729.1:p.Leu962=
ENST00000566319.2:n.1721C=
NM_000293.2:c.2905C=	NP_000284.1:p.Leu969=
NM_001031835.2:c.2884C=	NP_001027005.1:p.Leu962=
XM_005255983.3:c.2905C=	XP_005256040.1:p.Leu969=
XM_005255984.3:c.2884C=	XP_005256041.1:p.Leu962=
XM_011523107.1:c.1483C=	XP_011521409.1:p.Leu495=
NM_001363837.1:c.2905C=	NP_001350766.1:p.Leu969=
XM_005255983.4:c.2905C=	XP_005256040.1:p.Leu969=
XM_005255984.4:c.2884C=	XP_005256041.1:p.Leu962=
XM_017023282.1:c.1792C=	XP_016878771.1:p.Leu598=
XM_017023283.1:c.1483C=	XP_016878772.1:p.Leu495=
XM_017023284.1:c.1483C=	XP_016878773.1:p.Leu495=
XR_001751913.1:n.2829C=
NM_000293.3:c.2905C= MANE Select	NP_000284.1:p.Leu969=
NM_001031835.3:c.2884C=	NP_001027005.1:p.Leu962=