Canonical Allele Identifier: CA246558

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47515525A>G , CM000678.2:g.47515525A>G	GRCh38
NC_000016.9:g.47549436A>G , CM000678.1:g.47549436A>G	GRCh37
NC_000016.8:g.46106937A>G	NCBI36
NG_016598.1:g.59227A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.518A>G MANE Select	NP_000284.1:p.Asn173Ser
ENST00000323584.10:c.518A>G MANE Select	ENSP00000313504.5:p.Asn173Ser
NM_000293.2:c.518A>G	NP_000284.1:p.Asn173Ser
NM_001031835.2:c.497A>G	NP_001027005.1:p.Asn166Ser
NM_001031835.3:c.497A>G	NP_001027005.1:p.Asn166Ser
NM_001363837.1:c.518A>G	NP_001350766.1:p.Asn173Ser
ENST00000299167.12:c.518A>G	ENSP00000299167.8:p.Asn173Ser
ENST00000323584.9:c.518A>G	ENSP00000313504.5:p.Asn173Ser
ENST00000565424.2:n.97-31908A>G
ENST00000566037.6:c.497A>G	ENSP00000455664.2:p.Asn166Ser
ENST00000566044.5:c.497A>G	ENSP00000456729.1:p.Asn166Ser
ENST00000567402.5:n.533A>G
ENST00000570047.2:c.352A>G
ENST00000696809.1:c.497A>G	ENSP00000512887.1:p.Asn166Ser
ENST00000699276.1:c.497A>G	ENSP00000514257.1:p.Asn166Ser
XM_005255983.3:c.518A>G	XP_005256040.1:p.Asn173Ser
XM_005255983.4:c.518A>G	XP_005256040.1:p.Asn173Ser
XM_005255984.3:c.497A>G	XP_005256041.1:p.Asn166Ser
XM_005255984.4:c.497A>G	XP_005256041.1:p.Asn166Ser
XM_011523106.1:c.518A>G	XP_011521408.1:p.Asn173Ser
XM_017023283.1:c.-988A>G	XP_016878772.1:n.-988A>G
XM_017023284.1:c.-988A>G	XP_016878773.1:n.-988A>G
XR_001751913.1:n.533A>G