Canonical Allele Identifier: CA8040422

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47499905G>T , CM000678.2:g.47499905G>T	GRCh38
NC_000016.9:g.47533816G>T , CM000678.1:g.47533816G>T	GRCh37
NC_000016.8:g.46091317G>T	NCBI36
NG_016598.1:g.43607G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.305+11G>T MANE Select	NP_000284.1:n.305+11G>T
ENST00000323584.10:c.305+11G>T MANE Select	ENSP00000313504.5:n.305+11G>T
NM_000293.2:c.305+11G>T	NP_000284.1:n.305+11G>T
NM_001031835.2:c.284+11G>T	NP_001027005.1:n.284+11G>T
NM_001031835.3:c.284+11G>T	NP_001027005.1:n.284+11G>T
NM_001363837.1:c.305+11G>T	NP_001350766.1:n.305+11G>T
ENST00000299167.12:c.305+11G>T	ENSP00000299167.8:n.305+11G>T
ENST00000323584.9:c.305+11G>T	ENSP00000313504.5:n.305+11G>T
ENST00000563376.5:c.284+11G>T	ENSP00000457905.1:n.284+11G>T
ENST00000565424.2:n.96+38479G>T
ENST00000566037.6:c.284+11G>T	ENSP00000455664.2:n.284+11G>T
ENST00000566044.5:c.284+11G>T	ENSP00000456729.1:n.284+11G>T
ENST00000567402.5:n.320+11G>T
ENST00000570047.2:c.139+11G>T
ENST00000696809.1:c.284+11G>T	ENSP00000512887.1:n.284+11G>T
ENST00000699276.1:c.284+11G>T	ENSP00000514257.1:n.284+11G>T
XM_005255983.3:c.305+11G>T	XP_005256040.1:n.305+11G>T
XM_005255983.4:c.305+11G>T	XP_005256040.1:n.305+11G>T
XM_005255984.3:c.284+11G>T	XP_005256041.1:n.284+11G>T
XM_005255984.4:c.284+11G>T	XP_005256041.1:n.284+11G>T
XM_011523106.1:c.305+11G>T	XP_011521408.1:n.305+11G>T
XM_017023283.1:c.-1201+11G>T	XP_016878772.1:n.-1201+11G>T
XM_017023284.1:c.-1201+11G>T	XP_016878773.1:n.-1201+11G>T
XR_001751913.1:n.320+11G>T