Canonical Allele Identifier: CA8041086

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47660809A>C , CM000678.2:g.47660809A>C	GRCh38
NC_000016.9:g.47694720A>C , CM000678.1:g.47694720A>C	GRCh37
NC_000016.8:g.46252221A>C	NCBI36
NG_016598.1:g.204511A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.2186A>C MANE Select	NP_000284.1:p.Gln729Pro
ENST00000323584.10:c.2186A>C MANE Select	ENSP00000313504.5:p.Gln729Pro
NM_000293.2:c.2186A>C	NP_000284.1:p.Gln729Pro
NM_001031835.2:c.2165A>C	NP_001027005.1:p.Gln722Pro
NM_001031835.3:c.2165A>C	NP_001027005.1:p.Gln722Pro
NM_001363837.1:c.2186A>C	NP_001350766.1:p.Gln729Pro
ENST00000299167.12:c.2186A>C	ENSP00000299167.8:p.Gln729Pro
ENST00000323584.9:c.2186A>C	ENSP00000313504.5:p.Gln729Pro
ENST00000566044.5:c.2165A>C	ENSP00000456729.1:p.Gln722Pro
ENST00000566275.2:c.107A>C	ENSP00000459287.1:p.Gln36Pro
ENST00000568171.1:n.307A>C
ENST00000696809.1:c.*760A>C	ENSP00000512887.1:n.*760A>C
ENST00000699276.1:c.2165A>C	ENSP00000514257.1:p.Gln722Pro
XM_005255983.3:c.2186A>C	XP_005256040.1:p.Gln729Pro
XM_005255983.4:c.2186A>C	XP_005256040.1:p.Gln729Pro
XM_005255984.3:c.2165A>C	XP_005256041.1:p.Gln722Pro
XM_005255984.4:c.2165A>C	XP_005256041.1:p.Gln722Pro
XM_011523106.1:c.2186A>C	XP_011521408.1:p.Gln729Pro
XM_011523107.1:c.764A>C	XP_011521409.1:p.Gln255Pro
XM_017023282.1:c.1073A>C	XP_016878771.1:p.Gln358Pro
XM_017023283.1:c.764A>C	XP_016878772.1:p.Gln255Pro
XM_017023284.1:c.764A>C	XP_016878773.1:p.Gln255Pro
XR_001751913.1:n.2201A>C