Canonical Allele Identifier: CA396102616

Gene: PHKB ITFG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47461428T>C , CM000678.2:g.47461428T>C	GRCh38
NC_000016.9:g.47495339T>C , CM000678.1:g.47495339T>C	GRCh37
NC_000016.8:g.46052840T>C	NCBI36
NG_016598.1:g.5130T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.76+2T>C (PHKB) MANE Select	NP_000284.1:n.76+2T>C
ENST00000323584.10:c.76+2T>C (PHKB) MANE Select	ENSP00000313504.5:n.76+2T>C
NM_000293.2:c.76+2T>C (PHKB)	NP_000284.1:n.76+2T>C
NM_001031835.2:c.-58+2T>C (PHKB)	NP_001027005.1:n.-58+2T>C
NM_001031835.3:c.-58+2T>C (PHKB)	NP_001027005.1:n.-58+2T>C
NM_001363837.1:c.76+2T>C (PHKB)	NP_001350766.1:n.76+2T>C
ENST00000299167.12:c.76+2T>C (PHKB)	ENSP00000299167.8:n.76+2T>C
ENST00000323584.9:c.76+2T>C (PHKB)	ENSP00000313504.5:n.76+2T>C
ENST00000563376.5:c.-170+2T>C (PHKB)	ENSP00000457905.1:n.-170+2T>C
ENST00000563730.1:c.-131-2253A>G (ITFG1)	ENSP00000455630.1:n.-131-2253A>G
ENST00000565424.2:n.96+2T>C (PHKB)
ENST00000566037.6:c.-41+2T>C (PHKB)	ENSP00000455664.2:n.-41+2T>C
ENST00000566044.5:c.-58+2T>C (PHKB)	ENSP00000456729.1:n.-58+2T>C
ENST00000566721.1:n.98+2T>C (PHKB)
ENST00000567402.5:n.91+2T>C (PHKB)
ENST00000696809.1:c.-58+2T>C (PHKB)	ENSP00000512887.1:n.-58+2T>C
ENST00000699276.1:c.-41+2T>C (PHKB)	ENSP00000514257.1:n.-41+2T>C
XM_005255983.3:c.76+2T>C (PHKB)	XP_005256040.1:n.76+2T>C
XM_005255983.4:c.76+2T>C (PHKB)	XP_005256040.1:n.76+2T>C
XM_005255984.3:c.-41+2T>C (PHKB)	XP_005256041.1:n.-41+2T>C
XM_005255984.4:c.-41+2T>C (PHKB)	XP_005256041.1:n.-41+2T>C
XM_011523106.1:c.76+2T>C (PHKB)	XP_011521408.1:n.76+2T>C
XM_017023283.1:c.-1542+2T>C (PHKB)	XP_016878772.1:n.-1542+2T>C
XM_017023284.1:c.-1430+2T>C (PHKB)	XP_016878773.1:n.-1430+2T>C
XR_001751913.1:n.91+2T>C (PHKB)