Canonical Allele Identifier: CA495361387

Gene: PHKB

Linked Data

• MyVariant Identifiers: chr16:g.47730342T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696431T>A , CM000678.2:g.47696431T>A	GRCh38
NC_000016.9:g.47730342T>A , CM000678.1:g.47730342T>A	GRCh37
NC_000016.8:g.46287843T>A	NCBI36
NG_016598.1:g.240133T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1520T>A	ENSP00000512887.1:n.*1520T>A
ENST00000699276.1:c.*574T>A	ENSP00000514257.1:n.*574T>A
ENST00000323584.10:c.2946T>A MANE Select	ENSP00000313504.5:p.Leu982=
ENST00000299167.12:c.2946T>A	ENSP00000299167.8:p.Leu982=
ENST00000323584.9:c.2946T>A	ENSP00000313504.5:p.Leu982=
ENST00000566044.5:c.2925T>A	ENSP00000456729.1:p.Leu975=
ENST00000566319.2:n.1762T>A
NM_000293.2:c.2946T>A	NP_000284.1:p.Leu982=
NM_001031835.2:c.2925T>A	NP_001027005.1:p.Leu975=
XM_005255983.3:c.2946T>A	XP_005256040.1:p.Leu982=
XM_005255984.3:c.2925T>A	XP_005256041.1:p.Leu975=
XM_011523107.1:c.1524T>A	XP_011521409.1:p.Leu508=
NM_001363837.1:c.2946T>A	NP_001350766.1:p.Leu982=
XM_005255983.4:c.2946T>A	XP_005256040.1:p.Leu982=
XM_005255984.4:c.2925T>A	XP_005256041.1:p.Leu975=
XM_017023282.1:c.1833T>A	XP_016878771.1:p.Leu611=
XM_017023283.1:c.1524T>A	XP_016878772.1:p.Leu508=
XM_017023284.1:c.1524T>A	XP_016878773.1:p.Leu508=
XR_001751913.1:n.2870T>A
NM_000293.3:c.2946T>A MANE Select	NP_000284.1:p.Leu982=
NM_001031835.3:c.2925T>A	NP_001027005.1:p.Leu975=