Canonical Allele Identifier: CA8041393

Gene: PHKB

Linked Data

• dbSNP Id: rs750528508
• ExAC: 16:47730398 A / G
• gnomAD v2: 16-47730398-A-G
• gnomAD v3: 16-47696487-A-G
• gnomAD v4: 16-47696487-A-G
• MyVariant Identifiers: chr16:g.47730398A>G (hg19) ; chr16:g.47696487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696487A>G , CM000678.2:g.47696487A>G	GRCh38
NC_000016.9:g.47730398A>G , CM000678.1:g.47730398A>G	GRCh37
NC_000016.8:g.46287899A>G	NCBI36
NG_016598.1:g.240189A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1576A>G	ENSP00000512887.1:n.*1576A>G
ENST00000699276.1:c.*630A>G	ENSP00000514257.1:n.*630A>G
ENST00000323584.10:c.3002A>G MANE Select	ENSP00000313504.5:p.Glu1001Gly
ENST00000299167.12:c.3002A>G	ENSP00000299167.8:p.Glu1001Gly
ENST00000323584.9:c.3002A>G	ENSP00000313504.5:p.Glu1001Gly
ENST00000564711.2:c.16A>G
ENST00000566044.5:c.2981A>G	ENSP00000456729.1:p.Glu994Gly
ENST00000566319.2:n.1818A>G
NM_000293.2:c.3002A>G	NP_000284.1:p.Glu1001Gly
NM_001031835.2:c.2981A>G	NP_001027005.1:p.Glu994Gly
XM_005255983.3:c.3002A>G	XP_005256040.1:p.Glu1001Gly
XM_005255984.3:c.2981A>G	XP_005256041.1:p.Glu994Gly
XM_011523107.1:c.1580A>G	XP_011521409.1:p.Glu527Gly
NM_001363837.1:c.3002A>G	NP_001350766.1:p.Glu1001Gly
XM_005255983.4:c.3002A>G	XP_005256040.1:p.Glu1001Gly
XM_005255984.4:c.2981A>G	XP_005256041.1:p.Glu994Gly
XM_017023282.1:c.1889A>G	XP_016878771.1:p.Glu630Gly
XM_017023283.1:c.1580A>G	XP_016878772.1:p.Glu527Gly
XM_017023284.1:c.1580A>G	XP_016878773.1:p.Glu527Gly
XR_001751913.1:n.2926A>G
NM_000293.3:c.3002A>G MANE Select	NP_000284.1:p.Glu1001Gly
NM_001031835.3:c.2981A>G	NP_001027005.1:p.Glu994Gly