Canonical Allele Identifier: CA8040554

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47547428T>G , CM000678.2:g.47547428T>G	GRCh38
NC_000016.9:g.47581339T>G , CM000678.1:g.47581339T>G	GRCh37
NC_000016.8:g.46138840T>G	NCBI36
NG_016598.1:g.91130T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.595-5T>G MANE Select	NP_000284.1:n.595-5T>G
ENST00000323584.10:c.595-5T>G MANE Select	ENSP00000313504.5:n.595-5T>G
NM_000293.2:c.595-5T>G	NP_000284.1:n.595-5T>G
NM_001031835.2:c.574-5T>G	NP_001027005.1:n.574-5T>G
NM_001031835.3:c.574-5T>G	NP_001027005.1:n.574-5T>G
NM_001363837.1:c.595-5T>G	NP_001350766.1:n.595-5T>G
ENST00000299167.12:c.595-5T>G	ENSP00000299167.8:n.595-5T>G
ENST00000323584.9:c.595-5T>G	ENSP00000313504.5:n.595-5T>G
ENST00000565424.2:n.97-5T>G
ENST00000566037.6:c.574-5T>G	ENSP00000455664.2:n.574-5T>G
ENST00000566044.5:c.574-5T>G	ENSP00000456729.1:n.574-5T>G
ENST00000567402.5:n.610-5T>G
ENST00000570047.2:c.429-5T>G
ENST00000696809.1:c.574-5T>G	ENSP00000512887.1:n.574-5T>G
ENST00000699276.1:c.574-5T>G	ENSP00000514257.1:n.574-5T>G
XM_005255983.3:c.595-5T>G	XP_005256040.1:n.595-5T>G
XM_005255983.4:c.595-5T>G	XP_005256040.1:n.595-5T>G
XM_005255984.3:c.574-5T>G	XP_005256041.1:n.574-5T>G
XM_005255984.4:c.574-5T>G	XP_005256041.1:n.574-5T>G
XM_011523106.1:c.595-5T>G	XP_011521408.1:n.595-5T>G
XM_017023283.1:c.-911-5T>G	XP_016878772.1:n.-911-5T>G
XM_017023284.1:c.-911-5T>G	XP_016878773.1:n.-911-5T>G
XR_001751913.1:n.610-5T>G