Canonical Allele Identifier: CA8040950

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47649153A>G , CM000678.2:g.47649153A>G	GRCh38
NC_000016.9:g.47683064A>G , CM000678.1:g.47683064A>G	GRCh37
NC_000016.8:g.46240565A>G	NCBI36
NG_016598.1:g.192855A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.1746A>G MANE Select	NP_000284.1:p.Leu582=
ENST00000323584.10:c.1746A>G MANE Select	ENSP00000313504.5:p.Leu582=
NM_000293.2:c.1746A>G	NP_000284.1:p.Leu582=
NM_001031835.2:c.1725A>G	NP_001027005.1:p.Leu575=
NM_001031835.3:c.1725A>G	NP_001027005.1:p.Leu575=
NM_001363837.1:c.1746A>G	NP_001350766.1:p.Leu582=
ENST00000299167.12:c.1746A>G	ENSP00000299167.8:p.Leu582=
ENST00000323584.9:c.1746A>G	ENSP00000313504.5:p.Leu582=
ENST00000566044.5:c.1725A>G	ENSP00000456729.1:p.Leu575=
ENST00000696809.1:c.*320A>G	ENSP00000512887.1:n.*320A>G
ENST00000699276.1:c.1725A>G	ENSP00000514257.1:p.Leu575=
XM_005255983.3:c.1746A>G	XP_005256040.1:p.Leu582=
XM_005255983.4:c.1746A>G	XP_005256040.1:p.Leu582=
XM_005255984.3:c.1725A>G	XP_005256041.1:p.Leu575=
XM_005255984.4:c.1725A>G	XP_005256041.1:p.Leu575=
XM_011523106.1:c.1746A>G	XP_011521408.1:p.Leu582=
XM_011523107.1:c.324A>G	XP_011521409.1:p.Leu108=
XM_017023282.1:c.633A>G	XP_016878771.1:p.Leu211=
XM_017023283.1:c.324A>G	XP_016878772.1:p.Leu108=
XM_017023284.1:c.324A>G	XP_016878773.1:p.Leu108=
XR_001751913.1:n.1761A>G