Canonical Allele Identifier: CA280210680

Gene: PHKB

Linked Data

• ClinVar Variation Id: 559011
• ClinVar RCV Id: RCV000675929
• dbSNP Id: rs974712790
• gnomAD v2: 16-47684861-A-G
• gnomAD v4: 16-47650950-A-G
• MyVariant Identifiers: chr16:g.47684861A>G (hg19) ; chr16:g.47650950A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47650950A>G , CM000678.2:g.47650950A>G	GRCh38
NC_000016.9:g.47684861A>G , CM000678.1:g.47684861A>G	GRCh37
NC_000016.8:g.46242362A>G	NCBI36
NG_016598.1:g.194652A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*545+29A>G	ENSP00000512887.1:n.*545+29A>G
ENST00000699276.1:c.1950+29A>G	ENSP00000514257.1:n.1950+29A>G
ENST00000323584.10:c.1971+29A>G MANE Select	ENSP00000313504.5:n.1971+29A>G
ENST00000299167.12:c.1971+29A>G	ENSP00000299167.8:n.1971+29A>G
ENST00000323584.9:c.1971+29A>G	ENSP00000313504.5:n.1971+29A>G
ENST00000566044.5:c.1950+29A>G	ENSP00000456729.1:n.1950+29A>G
ENST00000568171.1:n.92+29A>G
NM_000293.2:c.1971+29A>G	NP_000284.1:n.1971+29A>G
NM_001031835.2:c.1950+29A>G	NP_001027005.1:n.1950+29A>G
XM_005255983.3:c.1971+29A>G	XP_005256040.1:n.1971+29A>G
XM_005255984.3:c.1950+29A>G	XP_005256041.1:n.1950+29A>G
XM_011523106.1:c.1971+29A>G	XP_011521408.1:n.1971+29A>G
XM_011523107.1:c.549+29A>G	XP_011521409.1:n.549+29A>G
NM_001363837.1:c.1971+29A>G	NP_001350766.1:n.1971+29A>G
XM_005255983.4:c.1971+29A>G	XP_005256040.1:n.1971+29A>G
XM_005255984.4:c.1950+29A>G	XP_005256041.1:n.1950+29A>G
XM_017023282.1:c.858+29A>G	XP_016878771.1:n.858+29A>G
XM_017023283.1:c.549+29A>G	XP_016878772.1:n.549+29A>G
XM_017023284.1:c.549+29A>G	XP_016878773.1:n.549+29A>G
XR_001751913.1:n.1986+29A>G
NM_000293.3:c.1971+29A>G MANE Select	NP_000284.1:n.1971+29A>G
NM_001031835.3:c.1950+29A>G	NP_001027005.1:n.1950+29A>G