Canonical Allele Identifier: CA495100218

Gene: PHKB

Linked Data

• ClinVar Variation Id: 2789835
• ClinVar RCV Id: RCV003627057
• MyVariant Identifiers: chr16:g.47684748C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47650837C>T , CM000678.2:g.47650837C>T	GRCh38
NC_000016.9:g.47684748C>T , CM000678.1:g.47684748C>T	GRCh37
NC_000016.8:g.46242249C>T	NCBI36
NG_016598.1:g.194539C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*461C>T	ENSP00000512887.1:n.*461C>T
ENST00000699276.1:c.1866C>T	ENSP00000514257.1:p.Ser622=
ENST00000323584.10:c.1887C>T MANE Select	ENSP00000313504.5:p.Ser629=
ENST00000299167.12:c.1887C>T	ENSP00000299167.8:p.Ser629=
ENST00000323584.9:c.1887C>T	ENSP00000313504.5:p.Ser629=
ENST00000566044.5:c.1866C>T	ENSP00000456729.1:p.Ser622=
ENST00000568171.1:n.8C>T
NM_000293.2:c.1887C>T	NP_000284.1:p.Ser629=
NM_001031835.2:c.1866C>T	NP_001027005.1:p.Ser622=
XM_005255983.3:c.1887C>T	XP_005256040.1:p.Ser629=
XM_005255984.3:c.1866C>T	XP_005256041.1:p.Ser622=
XM_011523106.1:c.1887C>T	XP_011521408.1:p.Ser629=
XM_011523107.1:c.465C>T	XP_011521409.1:p.Ser155=
NM_001363837.1:c.1887C>T	NP_001350766.1:p.Ser629=
XM_005255983.4:c.1887C>T	XP_005256040.1:p.Ser629=
XM_005255984.4:c.1866C>T	XP_005256041.1:p.Ser622=
XM_017023282.1:c.774C>T	XP_016878771.1:p.Ser258=
XM_017023283.1:c.465C>T	XP_016878772.1:p.Ser155=
XM_017023284.1:c.465C>T	XP_016878773.1:p.Ser155=
XR_001751913.1:n.1902C>T
NM_000293.3:c.1887C>T MANE Select	NP_000284.1:p.Ser629=
NM_001031835.3:c.1866C>T	NP_001027005.1:p.Ser622=