Canonical Allele Identifier: CA8041118

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47661766C>G , CM000678.2:g.47661766C>G	GRCh38
NC_000016.9:g.47695677C>G , CM000678.1:g.47695677C>G	GRCh37
NC_000016.8:g.46253178C>G	NCBI36
NG_016598.1:g.205468C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.2244C>G MANE Select	NP_000284.1:p.Leu748=
ENST00000323584.10:c.2244C>G MANE Select	ENSP00000313504.5:p.Leu748=
NM_000293.2:c.2244C>G	NP_000284.1:p.Leu748=
NM_001031835.2:c.2223C>G	NP_001027005.1:p.Leu741=
NM_001031835.3:c.2223C>G	NP_001027005.1:p.Leu741=
NM_001363837.1:c.2244C>G	NP_001350766.1:p.Leu748=
ENST00000299167.12:c.2244C>G	ENSP00000299167.8:p.Leu748=
ENST00000323584.9:c.2244C>G	ENSP00000313504.5:p.Leu748=
ENST00000566044.5:c.2223C>G	ENSP00000456729.1:p.Leu741=
ENST00000566275.2:c.165C>G	ENSP00000459287.1:p.Leu55=
ENST00000568171.1:n.365C>G
ENST00000696809.1:c.*818C>G	ENSP00000512887.1:n.*818C>G
ENST00000699276.1:c.2223C>G	ENSP00000514257.1:p.Leu741=
XM_005255983.3:c.2244C>G	XP_005256040.1:p.Leu748=
XM_005255983.4:c.2244C>G	XP_005256040.1:p.Leu748=
XM_005255984.3:c.2223C>G	XP_005256041.1:p.Leu741=
XM_005255984.4:c.2223C>G	XP_005256041.1:p.Leu741=
XM_011523106.1:c.2244C>G	XP_011521408.1:p.Leu748=
XM_011523107.1:c.822C>G	XP_011521409.1:p.Leu274=
XM_017023282.1:c.1131C>G	XP_016878771.1:p.Leu377=
XM_017023283.1:c.822C>G	XP_016878772.1:p.Leu274=
XM_017023284.1:c.822C>G	XP_016878773.1:p.Leu274=
XR_001751913.1:n.2259C>G