Canonical Allele Identifier: CA396101125

Gene: PHKB

Linked Data

• dbSNP Id: rs779418998
• gnomAD v3: 16-47696442-C-G
• gnomAD v4: 16-47696442-C-G
• MyVariant Identifiers: chr16:g.47730353C>G (hg19) ; chr16:g.47696442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696442C>G , CM000678.2:g.47696442C>G	GRCh38
NC_000016.9:g.47730353C>G , CM000678.1:g.47730353C>G	GRCh37
NC_000016.8:g.46287854C>G	NCBI36
NG_016598.1:g.240144C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1531C>G	ENSP00000512887.1:n.*1531C>G
ENST00000699276.1:c.*585C>G	ENSP00000514257.1:n.*585C>G
ENST00000323584.10:c.2957C>G MANE Select	ENSP00000313504.5:p.Thr986Arg
ENST00000299167.12:c.2957C>G	ENSP00000299167.8:p.Thr986Arg
ENST00000323584.9:c.2957C>G	ENSP00000313504.5:p.Thr986Arg
ENST00000566044.5:c.2936C>G	ENSP00000456729.1:p.Thr979Arg
ENST00000566319.2:n.1773C>G
NM_000293.2:c.2957C>G	NP_000284.1:p.Thr986Arg
NM_001031835.2:c.2936C>G	NP_001027005.1:p.Thr979Arg
XM_005255983.3:c.2957C>G	XP_005256040.1:p.Thr986Arg
XM_005255984.3:c.2936C>G	XP_005256041.1:p.Thr979Arg
XM_011523107.1:c.1535C>G	XP_011521409.1:p.Thr512Arg
NM_001363837.1:c.2957C>G	NP_001350766.1:p.Thr986Arg
XM_005255983.4:c.2957C>G	XP_005256040.1:p.Thr986Arg
XM_005255984.4:c.2936C>G	XP_005256041.1:p.Thr979Arg
XM_017023282.1:c.1844C>G	XP_016878771.1:p.Thr615Arg
XM_017023283.1:c.1535C>G	XP_016878772.1:p.Thr512Arg
XM_017023284.1:c.1535C>G	XP_016878773.1:p.Thr512Arg
XR_001751913.1:n.2881C>G
NM_000293.3:c.2957C>G MANE Select	NP_000284.1:p.Thr986Arg
NM_001031835.3:c.2936C>G	NP_001027005.1:p.Thr979Arg