Canonical Allele Identifier: CA495356958

Gene: PHKB

Linked Data

• ClinVar Variation Id: 3003180
• ClinVar RCV Id: RCV003867795
• MyVariant Identifiers: chr16:g.47536959C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47503048C>T , CM000678.2:g.47503048C>T	GRCh38
NC_000016.9:g.47536959C>T , CM000678.1:g.47536959C>T	GRCh37
NC_000016.8:g.46094460C>T	NCBI36
NG_016598.1:g.46750C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.342C>T	ENSP00000512887.1:p.Cys114=
ENST00000699276.1:c.342C>T	ENSP00000514257.1:p.Cys114=
ENST00000323584.10:c.363C>T MANE Select	ENSP00000313504.5:p.Cys121=
ENST00000299167.12:c.363C>T	ENSP00000299167.8:p.Cys121=
ENST00000323584.9:c.363C>T	ENSP00000313504.5:p.Cys121=
ENST00000563376.5:c.342C>T	ENSP00000457905.1:p.Cys114=
ENST00000565424.2:n.96+41622C>T
ENST00000566037.6:c.342C>T	ENSP00000455664.2:p.Cys114=
ENST00000566044.5:c.342C>T	ENSP00000456729.1:p.Cys114=
ENST00000567402.5:n.378C>T
ENST00000570047.2:c.197C>T
NM_000293.2:c.363C>T	NP_000284.1:p.Cys121=
NM_001031835.2:c.342C>T	NP_001027005.1:p.Cys114=
XM_005255983.3:c.363C>T	XP_005256040.1:p.Cys121=
XM_005255984.3:c.342C>T	XP_005256041.1:p.Cys114=
XM_011523106.1:c.363C>T	XP_011521408.1:p.Cys121=
NM_001363837.1:c.363C>T	NP_001350766.1:p.Cys121=
XM_005255983.4:c.363C>T	XP_005256040.1:p.Cys121=
XM_005255984.4:c.342C>T	XP_005256041.1:p.Cys114=
XM_017023283.1:c.-1143C>T	XP_016878772.1:n.-1143C>T
XM_017023284.1:c.-1143C>T	XP_016878773.1:n.-1143C>T
XR_001751913.1:n.378C>T
NM_000293.3:c.363C>T MANE Select	NP_000284.1:p.Cys121=
NM_001031835.3:c.342C>T	NP_001027005.1:p.Cys114=