Canonical Allele Identifier: CA622395754

Gene: PHKB

Linked Data

• dbSNP Id: rs1453653394
• gnomAD v2: 16-47730123-G-A
• gnomAD v3: 16-47696212-G-A
• gnomAD v4: 16-47696212-G-A
• MyVariant Identifiers: chr16:g.47730123G>A (hg19) ; chr16:g.47696212G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696212G>A , CM000678.2:g.47696212G>A	GRCh38
NC_000016.9:g.47730123G>A , CM000678.1:g.47730123G>A	GRCh37
NC_000016.8:g.46287624G>A	NCBI36
NG_016598.1:g.239914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1470-169G>A	ENSP00000512887.1:n.*1470-169G>A
ENST00000699276.1:c.*524-169G>A	ENSP00000514257.1:n.*524-169G>A
ENST00000323584.10:c.2896-169G>A MANE Select	ENSP00000313504.5:n.2896-169G>A
ENST00000299167.12:c.2896-169G>A	ENSP00000299167.8:n.2896-169G>A
ENST00000323584.9:c.2896-169G>A	ENSP00000313504.5:n.2896-169G>A
ENST00000566044.5:c.2875-169G>A	ENSP00000456729.1:n.2875-169G>A
ENST00000566319.2:n.1712-169G>A
NM_000293.2:c.2896-169G>A	NP_000284.1:n.2896-169G>A
NM_001031835.2:c.2875-169G>A	NP_001027005.1:n.2875-169G>A
XM_005255983.3:c.2896-169G>A	XP_005256040.1:n.2896-169G>A
XM_005255984.3:c.2875-169G>A	XP_005256041.1:n.2875-169G>A
XM_011523107.1:c.1474-169G>A	XP_011521409.1:n.1474-169G>A
NM_001363837.1:c.2896-169G>A	NP_001350766.1:n.2896-169G>A
XM_005255983.4:c.2896-169G>A	XP_005256040.1:n.2896-169G>A
XM_005255984.4:c.2875-169G>A	XP_005256041.1:n.2875-169G>A
XM_017023282.1:c.1783-169G>A	XP_016878771.1:n.1783-169G>A
XM_017023283.1:c.1474-169G>A	XP_016878772.1:n.1474-169G>A
XM_017023284.1:c.1474-169G>A	XP_016878773.1:n.1474-169G>A
XR_001751913.1:n.2820-169G>A
NM_000293.3:c.2896-169G>A MANE Select	NP_000284.1:n.2896-169G>A
NM_001031835.3:c.2875-169G>A	NP_001027005.1:n.2875-169G>A