Canonical Allele Identifier: CA395789372

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47661801G>A , CM000678.2:g.47661801G>A	GRCh38
NC_000016.9:g.47695712G>A , CM000678.1:g.47695712G>A	GRCh37
NC_000016.8:g.46253213G>A	NCBI36
NG_016598.1:g.205503G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.2278+1G>A MANE Select	NP_000284.1:n.2278+1G>A
ENST00000323584.10:c.2278+1G>A MANE Select	ENSP00000313504.5:n.2278+1G>A
NM_000293.2:c.2278+1G>A	NP_000284.1:n.2278+1G>A
NM_001031835.2:c.2257+1G>A	NP_001027005.1:n.2257+1G>A
NM_001031835.3:c.2257+1G>A	NP_001027005.1:n.2257+1G>A
NM_001363837.1:c.2278+1G>A	NP_001350766.1:n.2278+1G>A
ENST00000299167.12:c.2278+1G>A	ENSP00000299167.8:n.2278+1G>A
ENST00000323584.9:c.2278+1G>A	ENSP00000313504.5:n.2278+1G>A
ENST00000566044.5:c.2257+1G>A	ENSP00000456729.1:n.2257+1G>A
ENST00000566275.2:c.199+1G>A	ENSP00000459287.1:n.199+1G>A
ENST00000568171.1:n.399+1G>A
ENST00000696809.1:c.*852+1G>A	ENSP00000512887.1:n.*852+1G>A
ENST00000699276.1:c.2257+1G>A	ENSP00000514257.1:n.2257+1G>A
XM_005255983.3:c.2278+1G>A	XP_005256040.1:n.2278+1G>A
XM_005255983.4:c.2278+1G>A	XP_005256040.1:n.2278+1G>A
XM_005255984.3:c.2257+1G>A	XP_005256041.1:n.2257+1G>A
XM_005255984.4:c.2257+1G>A	XP_005256041.1:n.2257+1G>A
XM_011523106.1:c.2278+1G>A	XP_011521408.1:n.2278+1G>A
XM_011523107.1:c.856+1G>A	XP_011521409.1:n.856+1G>A
XM_017023282.1:c.1165+1G>A	XP_016878771.1:n.1165+1G>A
XM_017023283.1:c.856+1G>A	XP_016878772.1:n.856+1G>A
XM_017023284.1:c.856+1G>A	XP_016878773.1:n.856+1G>A
XR_001751913.1:n.2293+1G>A