Canonical Allele Identifier: CA8040772

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47596518C>T , CM000678.2:g.47596518C>T	GRCh38
NC_000016.9:g.47630429C>T , CM000678.1:g.47630429C>T	GRCh37
NC_000016.8:g.46187930C>T	NCBI36
NG_016598.1:g.140220C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.1350C>T MANE Select	NP_000284.1:p.Ile450=
ENST00000323584.10:c.1350C>T MANE Select	ENSP00000313504.5:p.Ile450=
NM_000293.2:c.1350C>T	NP_000284.1:p.Ile450=
NM_001031835.2:c.1329C>T	NP_001027005.1:p.Ile443=
NM_001031835.3:c.1329C>T	NP_001027005.1:p.Ile443=
NM_001363837.1:c.1350C>T	NP_001350766.1:p.Ile450=
ENST00000299167.12:c.1350C>T	ENSP00000299167.8:p.Ile450=
ENST00000323584.9:c.1350C>T	ENSP00000313504.5:p.Ile450=
ENST00000566044.5:c.1329C>T	ENSP00000456729.1:p.Ile443=
ENST00000566436.1:n.211C>T
ENST00000568439.1:c.91C>T
ENST00000696809.1:c.1329C>T	ENSP00000512887.1:p.Ile443=
ENST00000699276.1:c.1329C>T	ENSP00000514257.1:p.Ile443=
XM_005255983.3:c.1350C>T	XP_005256040.1:p.Ile450=
XM_005255983.4:c.1350C>T	XP_005256040.1:p.Ile450=
XM_005255984.3:c.1329C>T	XP_005256041.1:p.Ile443=
XM_005255984.4:c.1329C>T	XP_005256041.1:p.Ile443=
XM_011523106.1:c.1350C>T	XP_011521408.1:p.Ile450=
XM_017023282.1:c.237C>T	XP_016878771.1:p.Ile79=
XM_017023283.1:c.-156C>T	XP_016878772.1:n.-156C>T
XM_017023284.1:c.-156C>T	XP_016878773.1:n.-156C>T
XR_001751913.1:n.1365C>T