Canonical Allele Identifier: CA396101053

Gene: PHKB

Linked Data

• dbSNP Id: rs199948078
• gnomAD v2: 16-47730322-G-A
• gnomAD v3: 16-47696411-G-A
• gnomAD v4: 16-47696411-G-A
• MyVariant Identifiers: chr16:g.47730322G>A (hg19) ; chr16:g.47696411G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696411G>A , CM000678.2:g.47696411G>A	GRCh38
NC_000016.9:g.47730322G>A , CM000678.1:g.47730322G>A	GRCh37
NC_000016.8:g.46287823G>A	NCBI36
NG_016598.1:g.240113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1500G>A	ENSP00000512887.1:n.*1500G>A
ENST00000699276.1:c.*554G>A	ENSP00000514257.1:n.*554G>A
ENST00000323584.10:c.2926G>A MANE Select	ENSP00000313504.5:p.Glu976Lys
ENST00000299167.12:c.2926G>A	ENSP00000299167.8:p.Glu976Lys
ENST00000323584.9:c.2926G>A	ENSP00000313504.5:p.Glu976Lys
ENST00000566044.5:c.2905G>A	ENSP00000456729.1:p.Glu969Lys
ENST00000566319.2:n.1742G>A
NM_000293.2:c.2926G>A	NP_000284.1:p.Glu976Lys
NM_001031835.2:c.2905G>A	NP_001027005.1:p.Glu969Lys
XM_005255983.3:c.2926G>A	XP_005256040.1:p.Glu976Lys
XM_005255984.3:c.2905G>A	XP_005256041.1:p.Glu969Lys
XM_011523107.1:c.1504G>A	XP_011521409.1:p.Glu502Lys
NM_001363837.1:c.2926G>A	NP_001350766.1:p.Glu976Lys
XM_005255983.4:c.2926G>A	XP_005256040.1:p.Glu976Lys
XM_005255984.4:c.2905G>A	XP_005256041.1:p.Glu969Lys
XM_017023282.1:c.1813G>A	XP_016878771.1:p.Glu605Lys
XM_017023283.1:c.1504G>A	XP_016878772.1:p.Glu502Lys
XM_017023284.1:c.1504G>A	XP_016878773.1:p.Glu502Lys
XR_001751913.1:n.2850G>A
NM_000293.3:c.2926G>A MANE Select	NP_000284.1:p.Glu976Lys
NM_001031835.3:c.2905G>A	NP_001027005.1:p.Glu969Lys