Canonical Allele Identifier: CA396101166

Gene: PHKB

Linked Data

• ClinVar Variation Id: 2023921
• ClinVar RCV Id: RCV002862932
• gnomAD v4: 16-47696462-C-A
• MyVariant Identifiers: chr16:g.47730373C>A (hg19) ; chr16:g.47696462C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696462C>A , CM000678.2:g.47696462C>A	GRCh38
NC_000016.9:g.47730373C>A , CM000678.1:g.47730373C>A	GRCh37
NC_000016.8:g.46287874C>A	NCBI36
NG_016598.1:g.240164C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1551C>A	ENSP00000512887.1:n.*1551C>A
ENST00000699276.1:c.*605C>A	ENSP00000514257.1:n.*605C>A
ENST00000323584.10:c.2977C>A MANE Select	ENSP00000313504.5:p.Pro993Thr
ENST00000299167.12:c.2977C>A	ENSP00000299167.8:p.Pro993Thr
ENST00000323584.9:c.2977C>A	ENSP00000313504.5:p.Pro993Thr
ENST00000566044.5:c.2956C>A	ENSP00000456729.1:p.Pro986Thr
ENST00000566319.2:n.1793C>A
NM_000293.2:c.2977C>A	NP_000284.1:p.Pro993Thr
NM_001031835.2:c.2956C>A	NP_001027005.1:p.Pro986Thr
XM_005255983.3:c.2977C>A	XP_005256040.1:p.Pro993Thr
XM_005255984.3:c.2956C>A	XP_005256041.1:p.Pro986Thr
XM_011523107.1:c.1555C>A	XP_011521409.1:p.Pro519Thr
NM_001363837.1:c.2977C>A	NP_001350766.1:p.Pro993Thr
XM_005255983.4:c.2977C>A	XP_005256040.1:p.Pro993Thr
XM_005255984.4:c.2956C>A	XP_005256041.1:p.Pro986Thr
XM_017023282.1:c.1864C>A	XP_016878771.1:p.Pro622Thr
XM_017023283.1:c.1555C>A	XP_016878772.1:p.Pro519Thr
XM_017023284.1:c.1555C>A	XP_016878773.1:p.Pro519Thr
XR_001751913.1:n.2901C>A
NM_000293.3:c.2977C>A MANE Select	NP_000284.1:p.Pro993Thr
NM_001031835.3:c.2956C>A	NP_001027005.1:p.Pro986Thr