Canonical Allele Identifier: CA396100997

Gene: PHKB

Linked Data

• gnomAD v4: 16-47696384-C-T
• MyVariant Identifiers: chr16:g.47730295C>T (hg19) ; chr16:g.47696384C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696384C>T , CM000678.2:g.47696384C>T	GRCh38
NC_000016.9:g.47730295C>T , CM000678.1:g.47730295C>T	GRCh37
NC_000016.8:g.46287796C>T	NCBI36
NG_016598.1:g.240086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1473C>T	ENSP00000512887.1:n.*1473C>T
ENST00000699276.1:c.*527C>T	ENSP00000514257.1:n.*527C>T
ENST00000323584.10:c.2899C>T MANE Select	ENSP00000313504.5:p.Pro967Ser
ENST00000299167.12:c.2899C>T	ENSP00000299167.8:p.Pro967Ser
ENST00000323584.9:c.2899C>T	ENSP00000313504.5:p.Pro967Ser
ENST00000566044.5:c.2878C>T	ENSP00000456729.1:p.Pro960Ser
ENST00000566319.2:n.1715C>T
NM_000293.2:c.2899C>T	NP_000284.1:p.Pro967Ser
NM_001031835.2:c.2878C>T	NP_001027005.1:p.Pro960Ser
XM_005255983.3:c.2899C>T	XP_005256040.1:p.Pro967Ser
XM_005255984.3:c.2878C>T	XP_005256041.1:p.Pro960Ser
XM_011523107.1:c.1477C>T	XP_011521409.1:p.Pro493Ser
NM_001363837.1:c.2899C>T	NP_001350766.1:p.Pro967Ser
XM_005255983.4:c.2899C>T	XP_005256040.1:p.Pro967Ser
XM_005255984.4:c.2878C>T	XP_005256041.1:p.Pro960Ser
XM_017023282.1:c.1786C>T	XP_016878771.1:p.Pro596Ser
XM_017023283.1:c.1477C>T	XP_016878772.1:p.Pro493Ser
XM_017023284.1:c.1477C>T	XP_016878773.1:p.Pro493Ser
XR_001751913.1:n.2823C>T
NM_000293.3:c.2899C>T MANE Select	NP_000284.1:p.Pro967Ser
NM_001031835.3:c.2878C>T	NP_001027005.1:p.Pro960Ser