Canonical Allele Identifier: CA396100136

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47515562G>C , CM000678.2:g.47515562G>C	GRCh38
NC_000016.9:g.47549473G>C , CM000678.1:g.47549473G>C	GRCh37
NC_000016.8:g.46106974G>C	NCBI36
NG_016598.1:g.59264G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.534G>C	ENSP00000512887.1:p.Met178Ile
ENST00000699276.1:c.534G>C	ENSP00000514257.1:p.Met178Ile
ENST00000323584.10:c.555G>C MANE Select	ENSP00000313504.5:p.Met185Ile
ENST00000299167.12:c.555G>C	ENSP00000299167.8:p.Met185Ile
ENST00000323584.9:c.555G>C	ENSP00000313504.5:p.Met185Ile
ENST00000565424.2:n.97-31871G>C
ENST00000566037.6:c.534G>C	ENSP00000455664.2:p.Met178Ile
ENST00000566044.5:c.534G>C	ENSP00000456729.1:p.Met178Ile
ENST00000567402.5:n.570G>C
ENST00000570047.2:c.389G>C
NM_000293.2:c.555G>C	NP_000284.1:p.Met185Ile
NM_001031835.2:c.534G>C	NP_001027005.1:p.Met178Ile
XM_005255983.3:c.555G>C	XP_005256040.1:p.Met185Ile
XM_005255984.3:c.534G>C	XP_005256041.1:p.Met178Ile
XM_011523106.1:c.555G>C	XP_011521408.1:p.Met185Ile
NM_001363837.1:c.555G>C	NP_001350766.1:p.Met185Ile
XM_005255983.4:c.555G>C	XP_005256040.1:p.Met185Ile
XM_005255984.4:c.534G>C	XP_005256041.1:p.Met178Ile
XM_017023283.1:c.-951G>C	XP_016878772.1:n.-951G>C
XM_017023284.1:c.-951G>C	XP_016878773.1:n.-951G>C
XR_001751913.1:n.570G>C
NM_000293.3:c.555G>C MANE Select	NP_000284.1:p.Met185Ile
NM_001031835.3:c.534G>C	NP_001027005.1:p.Met178Ile