Canonical Allele Identifier: CA977034345

Gene: PHKB

Linked Data

• dbSNP Id: rs1973221869
• gnomAD v3: 16-47650718-T-C
• gnomAD v4: 16-47650718-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47650718T>C , CM000678.2:g.47650718T>C	GRCh38
NC_000016.9:g.47684629T>C , CM000678.1:g.47684629T>C	GRCh37
NC_000016.8:g.46242130T>C	NCBI36
NG_016598.1:g.194420T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*454+92T>C	ENSP00000512887.1:n.*454+92T>C
ENST00000699276.1:c.1859+92T>C	ENSP00000514257.1:n.1859+92T>C
ENST00000323584.10:c.1880+92T>C MANE Select	ENSP00000313504.5:n.1880+92T>C
ENST00000299167.12:c.1880+92T>C	ENSP00000299167.8:n.1880+92T>C
ENST00000323584.9:c.1880+92T>C	ENSP00000313504.5:n.1880+92T>C
ENST00000566044.5:c.1859+92T>C	ENSP00000456729.1:n.1859+92T>C
NM_000293.2:c.1880+92T>C	NP_000284.1:n.1880+92T>C
NM_001031835.2:c.1859+92T>C	NP_001027005.1:n.1859+92T>C
XM_005255983.3:c.1880+92T>C	XP_005256040.1:n.1880+92T>C
XM_005255984.3:c.1859+92T>C	XP_005256041.1:n.1859+92T>C
XM_011523106.1:c.1880+92T>C	XP_011521408.1:n.1880+92T>C
XM_011523107.1:c.458+92T>C	XP_011521409.1:n.458+92T>C
NM_001363837.1:c.1880+92T>C	NP_001350766.1:n.1880+92T>C
XM_005255983.4:c.1880+92T>C	XP_005256040.1:n.1880+92T>C
XM_005255984.4:c.1859+92T>C	XP_005256041.1:n.1859+92T>C
XM_017023282.1:c.767+92T>C	XP_016878771.1:n.767+92T>C
XM_017023283.1:c.458+92T>C	XP_016878772.1:n.458+92T>C
XM_017023284.1:c.458+92T>C	XP_016878773.1:n.458+92T>C
XR_001751913.1:n.1895+92T>C
NM_000293.3:c.1880+92T>C MANE Select	NP_000284.1:n.1880+92T>C
NM_001031835.3:c.1859+92T>C	NP_001027005.1:n.1859+92T>C