Canonical Allele Identifier: CA280223675

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47593559T>C , CM000678.2:g.47593559T>C	GRCh38
NC_000016.9:g.47627470T>C , CM000678.1:g.47627470T>C	GRCh37
NC_000016.8:g.46184971T>C	NCBI36
NG_016598.1:g.137261T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.1126+2T>C MANE Select	NP_000284.1:n.1126+2T>C
ENST00000323584.10:c.1126+2T>C MANE Select	ENSP00000313504.5:n.1126+2T>C
NM_000293.2:c.1126+2T>C	NP_000284.1:n.1126+2T>C
NM_001031835.2:c.1105+2T>C	NP_001027005.1:n.1105+2T>C
NM_001031835.3:c.1105+2T>C	NP_001027005.1:n.1105+2T>C
NM_001363837.1:c.1126+2T>C	NP_001350766.1:n.1126+2T>C
ENST00000299167.12:c.1126+2T>C	ENSP00000299167.8:n.1126+2T>C
ENST00000323584.9:c.1126+2T>C	ENSP00000313504.5:n.1126+2T>C
ENST00000566044.5:c.1105+2T>C	ENSP00000456729.1:n.1105+2T>C
ENST00000696809.1:c.1105+2T>C	ENSP00000512887.1:n.1105+2T>C
ENST00000699276.1:c.1105+2T>C	ENSP00000514257.1:n.1105+2T>C
XM_005255983.3:c.1126+2T>C	XP_005256040.1:n.1126+2T>C
XM_005255983.4:c.1126+2T>C	XP_005256040.1:n.1126+2T>C
XM_005255984.3:c.1105+2T>C	XP_005256041.1:n.1105+2T>C
XM_005255984.4:c.1105+2T>C	XP_005256041.1:n.1105+2T>C
XM_011523106.1:c.1126+2T>C	XP_011521408.1:n.1126+2T>C
XM_017023282.1:c.13+2T>C	XP_016878771.1:n.13+2T>C
XM_017023283.1:c.-380+2T>C	XP_016878772.1:n.-380+2T>C
XM_017023284.1:c.-380+2T>C	XP_016878773.1:n.-380+2T>C
XR_001751913.1:n.1141+2T>C