Canonical Allele Identifier: CA395787716

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47547549G>T , CM000678.2:g.47547549G>T	GRCh38
NC_000016.9:g.47581460G>T , CM000678.1:g.47581460G>T	GRCh37
NC_000016.8:g.46138961G>T	NCBI36
NG_016598.1:g.91251G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.710+1G>T MANE Select	NP_000284.1:n.710+1G>T
ENST00000323584.10:c.710+1G>T MANE Select	ENSP00000313504.5:n.710+1G>T
NM_000293.2:c.710+1G>T	NP_000284.1:n.710+1G>T
NM_001031835.2:c.689+1G>T	NP_001027005.1:n.689+1G>T
NM_001031835.3:c.689+1G>T	NP_001027005.1:n.689+1G>T
NM_001363837.1:c.710+1G>T	NP_001350766.1:n.710+1G>T
ENST00000299167.12:c.710+1G>T	ENSP00000299167.8:n.710+1G>T
ENST00000323584.9:c.710+1G>T	ENSP00000313504.5:n.710+1G>T
ENST00000565424.2:n.213G>T
ENST00000566044.5:c.689+1G>T	ENSP00000456729.1:n.689+1G>T
ENST00000567402.5:n.725+1G>T
ENST00000570047.2:c.544+1G>T
ENST00000696809.1:c.689+1G>T	ENSP00000512887.1:n.689+1G>T
ENST00000699276.1:c.689+1G>T	ENSP00000514257.1:n.689+1G>T
XM_005255983.3:c.710+1G>T	XP_005256040.1:n.710+1G>T
XM_005255983.4:c.710+1G>T	XP_005256040.1:n.710+1G>T
XM_005255984.3:c.689+1G>T	XP_005256041.1:n.689+1G>T
XM_005255984.4:c.689+1G>T	XP_005256041.1:n.689+1G>T
XM_011523106.1:c.710+1G>T	XP_011521408.1:n.710+1G>T
XM_017023283.1:c.-796+1G>T	XP_016878772.1:n.-796+1G>T
XM_017023284.1:c.-796+1G>T	XP_016878773.1:n.-796+1G>T
XR_001751913.1:n.725+1G>T