Canonical Allele Identifier: CA14346524

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47664805T>A , CM000678.2:g.47664805T>A	GRCh38
NC_000016.9:g.47698716T>A , CM000678.1:g.47698716T>A	GRCh37
NC_000016.8:g.46256217T>A	NCBI36
NG_016598.1:g.208507T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*910+1071T>A	ENSP00000512887.1:n.*910+1071T>A
ENST00000699276.1:c.2316-80T>A	ENSP00000514257.1:n.2316-80T>A
ENST00000323584.10:c.2337-80T>A MANE Select	ENSP00000313504.5:n.2337-80T>A
ENST00000299167.12:c.2336+1071T>A	ENSP00000299167.8:n.2336+1071T>A
ENST00000323584.9:c.2337-80T>A	ENSP00000313504.5:n.2337-80T>A
ENST00000566044.5:c.2315+1071T>A	ENSP00000456729.1:n.2315+1071T>A
ENST00000566275.2:c.257+1071T>A	ENSP00000459287.1:n.257+1071T>A
ENST00000566319.2:n.16T>A
NM_000293.2:c.2337-80T>A	NP_000284.1:n.2337-80T>A
NM_001031835.2:c.2315+1071T>A	NP_001027005.1:n.2315+1071T>A
XM_005255983.3:c.2336+1071T>A	XP_005256040.1:n.2336+1071T>A
XM_005255984.3:c.2315+1071T>A	XP_005256041.1:n.2315+1071T>A
XM_011523106.1:c.2336+1071T>A	XP_011521408.1:n.2336+1071T>A
XM_011523107.1:c.914+1071T>A	XP_011521409.1:n.914+1071T>A
NM_001363837.1:c.2336+1071T>A	NP_001350766.1:n.2336+1071T>A
XM_005255983.4:c.2336+1071T>A	XP_005256040.1:n.2336+1071T>A
XM_005255984.4:c.2315+1071T>A	XP_005256041.1:n.2315+1071T>A
XM_017023282.1:c.1223+1071T>A	XP_016878771.1:n.1223+1071T>A
XM_017023283.1:c.914+1071T>A	XP_016878772.1:n.914+1071T>A
XM_017023284.1:c.914+1071T>A	XP_016878773.1:n.914+1071T>A
XR_001751913.1:n.2351+1071T>A
NM_000293.3:c.2337-80T>A MANE Select	NP_000284.1:n.2337-80T>A
NM_001031835.3:c.2315+1071T>A	NP_001027005.1:n.2315+1071T>A