Canonical Allele Identifier: CA242627

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47669232T>C , CM000678.2:g.47669232T>C	GRCh38
NC_000016.9:g.47703143T>C , CM000678.1:g.47703143T>C	GRCh37
NC_000016.8:g.46260644T>C	NCBI36
NG_016598.1:g.212934T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.2445T>C MANE Select	NP_000284.1:p.Phe815=
ENST00000323584.10:c.2445T>C MANE Select	ENSP00000313504.5:p.Phe815=
NM_000293.2:c.2445T>C	NP_000284.1:p.Phe815=
NM_001031835.2:c.2424T>C	NP_001027005.1:p.Phe808=
NM_001031835.3:c.2424T>C	NP_001027005.1:p.Phe808=
NM_001363837.1:c.2445T>C	NP_001350766.1:p.Phe815=
ENST00000299167.12:c.2445T>C	ENSP00000299167.8:p.Phe815=
ENST00000323584.9:c.2445T>C	ENSP00000313504.5:p.Phe815=
ENST00000566044.5:c.2424T>C	ENSP00000456729.1:p.Phe808=
ENST00000566275.2:c.366T>C	ENSP00000459287.1:p.Phe122=
ENST00000566319.2:n.1261T>C
ENST00000696809.1:c.*1019T>C	ENSP00000512887.1:n.*1019T>C
ENST00000699276.1:c.*73T>C	ENSP00000514257.1:n.*73T>C
XM_005255983.3:c.2445T>C	XP_005256040.1:p.Phe815=
XM_005255983.4:c.2445T>C	XP_005256040.1:p.Phe815=
XM_005255984.3:c.2424T>C	XP_005256041.1:p.Phe808=
XM_005255984.4:c.2424T>C	XP_005256041.1:p.Phe808=
XM_011523106.1:c.*14T>C	XP_011521408.1:n.*14T>C
XM_011523107.1:c.1023T>C	XP_011521409.1:p.Phe341=
XM_017023282.1:c.1332T>C	XP_016878771.1:p.Phe444=
XM_017023283.1:c.1023T>C	XP_016878772.1:p.Phe341=
XM_017023284.1:c.1023T>C	XP_016878773.1:p.Phe341=
XR_001751913.1:n.2369T>C