Canonical Allele Identifier: CA495361457

Gene: PHKB

Linked Data

• gnomAD v4: 16-47698501-A-G
• MyVariant Identifiers: chr16:g.47732412A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698501A>G , CM000678.2:g.47698501A>G	GRCh38
NC_000016.9:g.47732412A>G , CM000678.1:g.47732412A>G	GRCh37
NC_000016.8:g.46289913A>G	NCBI36
NG_016598.1:g.242203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1631A>G	ENSP00000512887.1:n.*1631A>G
ENST00000699276.1:c.*685A>G	ENSP00000514257.1:n.*685A>G
ENST00000323584.10:c.3057A>G MANE Select	ENSP00000313504.5:p.Gln1019=
ENST00000299167.12:c.3057A>G	ENSP00000299167.8:p.Gln1019=
ENST00000323584.9:c.3057A>G	ENSP00000313504.5:p.Gln1019=
ENST00000564711.2:c.71A>G
ENST00000566044.5:c.3036A>G	ENSP00000456729.1:p.Gln1012=
ENST00000566319.2:n.1873A>G
NM_000293.2:c.3057A>G	NP_000284.1:p.Gln1019=
NM_001031835.2:c.3036A>G	NP_001027005.1:p.Gln1012=
XM_005255983.3:c.3057A>G	XP_005256040.1:p.Gln1019=
XM_005255984.3:c.3036A>G	XP_005256041.1:p.Gln1012=
XM_011523107.1:c.1635A>G	XP_011521409.1:p.Gln545=
NM_001363837.1:c.3057A>G	NP_001350766.1:p.Gln1019=
XM_005255983.4:c.3057A>G	XP_005256040.1:p.Gln1019=
XM_005255984.4:c.3036A>G	XP_005256041.1:p.Gln1012=
XM_017023282.1:c.1944A>G	XP_016878771.1:p.Gln648=
XM_017023283.1:c.1635A>G	XP_016878772.1:p.Gln545=
XM_017023284.1:c.1635A>G	XP_016878773.1:p.Gln545=
XR_001751913.1:n.2981A>G
NM_000293.3:c.3057A>G MANE Select	NP_000284.1:p.Gln1019=
NM_001031835.3:c.3036A>G	NP_001027005.1:p.Gln1012=