Canonical Allele Identifier: CA396101695

Gene: PHKB

Linked Data

• dbSNP Id: rs1597191201
• gnomAD v3: 16-47698577-A-G
• gnomAD v4: 16-47698577-A-G
• MyVariant Identifiers: chr16:g.47732488A>G (hg19) ; chr16:g.47698577A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698577A>G , CM000678.2:g.47698577A>G	GRCh38
NC_000016.9:g.47732488A>G , CM000678.1:g.47732488A>G	GRCh37
NC_000016.8:g.46289989A>G	NCBI36
NG_016598.1:g.242279A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1707A>G	ENSP00000512887.1:n.*1707A>G
ENST00000699276.1:c.*761A>G	ENSP00000514257.1:n.*761A>G
ENST00000323584.10:c.3133A>G MANE Select	ENSP00000313504.5:p.Ile1045Val
ENST00000299167.12:c.3133A>G	ENSP00000299167.8:p.Ile1045Val
ENST00000323584.9:c.3133A>G	ENSP00000313504.5:p.Ile1045Val
ENST00000564711.2:c.147A>G
ENST00000566044.5:c.3112A>G	ENSP00000456729.1:p.Ile1038Val
ENST00000566319.2:n.1949A>G
NM_000293.2:c.3133A>G	NP_000284.1:p.Ile1045Val
NM_001031835.2:c.3112A>G	NP_001027005.1:p.Ile1038Val
XM_005255983.3:c.3133A>G	XP_005256040.1:p.Ile1045Val
XM_005255984.3:c.3112A>G	XP_005256041.1:p.Ile1038Val
XM_011523107.1:c.1711A>G	XP_011521409.1:p.Ile571Val
NM_001363837.1:c.3133A>G	NP_001350766.1:p.Ile1045Val
XM_005255983.4:c.3133A>G	XP_005256040.1:p.Ile1045Val
XM_005255984.4:c.3112A>G	XP_005256041.1:p.Ile1038Val
XM_017023282.1:c.2020A>G	XP_016878771.1:p.Ile674Val
XM_017023283.1:c.1711A>G	XP_016878772.1:p.Ile571Val
XM_017023284.1:c.1711A>G	XP_016878773.1:p.Ile571Val
XR_001751913.1:n.3057A>G
NM_000293.3:c.3133A>G MANE Select	NP_000284.1:p.Ile1045Val
NM_001031835.3:c.3112A>G	NP_001027005.1:p.Ile1038Val