Canonical Allele Identifier: CA395795940

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47588977C>T , CM000678.2:g.47588977C>T	GRCh38
NC_000016.9:g.47622888C>T , CM000678.1:g.47622888C>T	GRCh37
NC_000016.8:g.46180389C>T	NCBI36
NG_016598.1:g.132679C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.943C>T MANE Select	NP_000284.1:p.Gln315Ter
ENST00000323584.10:c.943C>T MANE Select	ENSP00000313504.5:p.Gln315Ter
NM_000293.2:c.943C>T	NP_000284.1:p.Gln315Ter
NM_001031835.2:c.922C>T	NP_001027005.1:p.Gln308Ter
NM_001031835.3:c.922C>T	NP_001027005.1:p.Gln308Ter
NM_001363837.1:c.943C>T	NP_001350766.1:p.Gln315Ter
ENST00000299167.12:c.943C>T	ENSP00000299167.8:p.Gln315Ter
ENST00000323584.9:c.943C>T	ENSP00000313504.5:p.Gln315Ter
ENST00000566044.5:c.922C>T	ENSP00000456729.1:p.Gln308Ter
ENST00000567402.5:n.958C>T
ENST00000696809.1:c.922C>T	ENSP00000512887.1:p.Gln308Ter
ENST00000699276.1:c.922C>T	ENSP00000514257.1:p.Gln308Ter
XM_005255983.3:c.943C>T	XP_005256040.1:p.Gln315Ter
XM_005255983.4:c.943C>T	XP_005256040.1:p.Gln315Ter
XM_005255984.3:c.922C>T	XP_005256041.1:p.Gln308Ter
XM_005255984.4:c.922C>T	XP_005256041.1:p.Gln308Ter
XM_011523106.1:c.943C>T	XP_011521408.1:p.Gln315Ter
XM_017023282.1:c.-171C>T	XP_016878771.1:n.-171C>T
XM_017023283.1:c.-563C>T	XP_016878772.1:n.-563C>T
XM_017023284.1:c.-563C>T	XP_016878773.1:n.-563C>T
XR_001751913.1:n.958C>T