Canonical Allele Identifier: CA8041392

Gene: PHKB

Linked Data

• dbSNP Id: rs143211850
• ExAC: 16:47730397 G / C
• gnomAD v2: 16-47730397-G-C
• MyVariant Identifiers: chr16:g.47730397G>C (hg19) ; chr16:g.47696486G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696486G>C , CM000678.2:g.47696486G>C	GRCh38
NC_000016.9:g.47730397G>C , CM000678.1:g.47730397G>C	GRCh37
NC_000016.8:g.46287898G>C	NCBI36
NG_016598.1:g.240188G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1575G>C	ENSP00000512887.1:n.*1575G>C
ENST00000699276.1:c.*629G>C	ENSP00000514257.1:n.*629G>C
ENST00000323584.10:c.3001G>C MANE Select	ENSP00000313504.5:p.Glu1001Gln
ENST00000299167.12:c.3001G>C	ENSP00000299167.8:p.Glu1001Gln
ENST00000323584.9:c.3001G>C	ENSP00000313504.5:p.Glu1001Gln
ENST00000564711.2:c.15G>C
ENST00000566044.5:c.2980G>C	ENSP00000456729.1:p.Glu994Gln
ENST00000566319.2:n.1817G>C
NM_000293.2:c.3001G>C	NP_000284.1:p.Glu1001Gln
NM_001031835.2:c.2980G>C	NP_001027005.1:p.Glu994Gln
XM_005255983.3:c.3001G>C	XP_005256040.1:p.Glu1001Gln
XM_005255984.3:c.2980G>C	XP_005256041.1:p.Glu994Gln
XM_011523107.1:c.1579G>C	XP_011521409.1:p.Glu527Gln
NM_001363837.1:c.3001G>C	NP_001350766.1:p.Glu1001Gln
XM_005255983.4:c.3001G>C	XP_005256040.1:p.Glu1001Gln
XM_005255984.4:c.2980G>C	XP_005256041.1:p.Glu994Gln
XM_017023282.1:c.1888G>C	XP_016878771.1:p.Glu630Gln
XM_017023283.1:c.1579G>C	XP_016878772.1:p.Glu527Gln
XM_017023284.1:c.1579G>C	XP_016878773.1:p.Glu527Gln
XR_001751913.1:n.2925G>C
NM_000293.3:c.3001G>C MANE Select	NP_000284.1:p.Glu1001Gln
NM_001031835.3:c.2980G>C	NP_001027005.1:p.Glu994Gln