Canonical Allele Identifier: CA622390566

Gene: PHKB

Linked Data

• dbSNP Id: rs563392233
• gnomAD v2: 16-47536875-G-C
• gnomAD v4: 16-47502964-G-C
• MyVariant Identifiers: chr16:g.47536875G>C (hg19) ; chr16:g.47502964G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47502964G>C , CM000678.2:g.47502964G>C	GRCh38
NC_000016.9:g.47536875G>C , CM000678.1:g.47536875G>C	GRCh37
NC_000016.8:g.46094376G>C	NCBI36
NG_016598.1:g.46666G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.285-27G>C	ENSP00000512887.1:n.285-27G>C
ENST00000699276.1:c.285-27G>C	ENSP00000514257.1:n.285-27G>C
ENST00000323584.10:c.306-27G>C MANE Select	ENSP00000313504.5:n.306-27G>C
ENST00000299167.12:c.306-27G>C	ENSP00000299167.8:n.306-27G>C
ENST00000323584.9:c.306-27G>C	ENSP00000313504.5:n.306-27G>C
ENST00000563376.5:c.285-27G>C	ENSP00000457905.1:n.285-27G>C
ENST00000565424.2:n.96+41538G>C
ENST00000566037.6:c.285-27G>C	ENSP00000455664.2:n.285-27G>C
ENST00000566044.5:c.285-27G>C	ENSP00000456729.1:n.285-27G>C
ENST00000567402.5:n.321-27G>C
ENST00000570047.2:c.140-27G>C
NM_000293.2:c.306-27G>C	NP_000284.1:n.306-27G>C
NM_001031835.2:c.285-27G>C	NP_001027005.1:n.285-27G>C
XM_005255983.3:c.306-27G>C	XP_005256040.1:n.306-27G>C
XM_005255984.3:c.285-27G>C	XP_005256041.1:n.285-27G>C
XM_011523106.1:c.306-27G>C	XP_011521408.1:n.306-27G>C
NM_001363837.1:c.306-27G>C	NP_001350766.1:n.306-27G>C
XM_005255983.4:c.306-27G>C	XP_005256040.1:n.306-27G>C
XM_005255984.4:c.285-27G>C	XP_005256041.1:n.285-27G>C
XM_017023283.1:c.-1200-27G>C	XP_016878772.1:n.-1200-27G>C
XM_017023284.1:c.-1200-27G>C	XP_016878773.1:n.-1200-27G>C
XR_001751913.1:n.321-27G>C
NM_000293.3:c.306-27G>C MANE Select	NP_000284.1:n.306-27G>C
NM_001031835.3:c.285-27G>C	NP_001027005.1:n.285-27G>C