Canonical Allele Identifier: CA396097662

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47497449G>T , CM000678.2:g.47497449G>T	GRCh38
NC_000016.9:g.47531360G>T , CM000678.1:g.47531360G>T	GRCh37
NC_000016.8:g.46088861G>T	NCBI36
NG_016598.1:g.41151G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.127G>T MANE Select	NP_000284.1:p.Glu43Ter
ENST00000323584.10:c.127G>T MANE Select	ENSP00000313504.5:p.Glu43Ter
NM_000293.2:c.127G>T	NP_000284.1:p.Glu43Ter
NM_001031835.2:c.106G>T	NP_001027005.1:p.Glu36Ter
NM_001031835.3:c.106G>T	NP_001027005.1:p.Glu36Ter
NM_001363837.1:c.127G>T	NP_001350766.1:p.Glu43Ter
ENST00000299167.12:c.127G>T	ENSP00000299167.8:p.Glu43Ter
ENST00000323584.9:c.127G>T	ENSP00000313504.5:p.Glu43Ter
ENST00000563376.5:c.106G>T	ENSP00000457905.1:p.Glu36Ter
ENST00000564873.1:c.106G>T	ENSP00000460408.1:p.Glu36Ter
ENST00000565424.2:n.96+36023G>T
ENST00000566037.6:c.106G>T	ENSP00000455664.2:p.Glu36Ter
ENST00000566044.5:c.106G>T	ENSP00000456729.1:p.Glu36Ter
ENST00000567402.5:n.142G>T
ENST00000696809.1:c.106G>T	ENSP00000512887.1:p.Glu36Ter
ENST00000699276.1:c.106G>T	ENSP00000514257.1:p.Glu36Ter
XM_005255983.3:c.127G>T	XP_005256040.1:p.Glu43Ter
XM_005255983.4:c.127G>T	XP_005256040.1:p.Glu43Ter
XM_005255984.3:c.106G>T	XP_005256041.1:p.Glu36Ter
XM_005255984.4:c.106G>T	XP_005256041.1:p.Glu36Ter
XM_011523106.1:c.127G>T	XP_011521408.1:p.Glu43Ter
XM_017023283.1:c.-1379G>T	XP_016878772.1:n.-1379G>T
XM_017023284.1:c.-1379G>T	XP_016878773.1:n.-1379G>T
XR_001751913.1:n.142G>T