Canonical Allele Identifier: CA396101539

Gene: PHKB

Linked Data

• MyVariant Identifiers: chr16:g.47732415C>G (hg19) ; chr16:g.47698504C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698504C>G , CM000678.2:g.47698504C>G	GRCh38
NC_000016.9:g.47732415C>G , CM000678.1:g.47732415C>G	GRCh37
NC_000016.8:g.46289916C>G	NCBI36
NG_016598.1:g.242206C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*1634C>G	ENSP00000512887.1:n.*1634C>G
ENST00000699276.1:c.*688C>G	ENSP00000514257.1:n.*688C>G
ENST00000323584.10:c.3060C>G MANE Select	ENSP00000313504.5:p.Asp1020Glu
ENST00000299167.12:c.3060C>G	ENSP00000299167.8:p.Asp1020Glu
ENST00000323584.9:c.3060C>G	ENSP00000313504.5:p.Asp1020Glu
ENST00000564711.2:c.74C>G
ENST00000566044.5:c.3039C>G	ENSP00000456729.1:p.Asp1013Glu
ENST00000566319.2:n.1876C>G
NM_000293.2:c.3060C>G	NP_000284.1:p.Asp1020Glu
NM_001031835.2:c.3039C>G	NP_001027005.1:p.Asp1013Glu
XM_005255983.3:c.3060C>G	XP_005256040.1:p.Asp1020Glu
XM_005255984.3:c.3039C>G	XP_005256041.1:p.Asp1013Glu
XM_011523107.1:c.1638C>G	XP_011521409.1:p.Asp546Glu
NM_001363837.1:c.3060C>G	NP_001350766.1:p.Asp1020Glu
XM_005255983.4:c.3060C>G	XP_005256040.1:p.Asp1020Glu
XM_005255984.4:c.3039C>G	XP_005256041.1:p.Asp1013Glu
XM_017023282.1:c.1947C>G	XP_016878771.1:p.Asp649Glu
XM_017023283.1:c.1638C>G	XP_016878772.1:p.Asp546Glu
XM_017023284.1:c.1638C>G	XP_016878773.1:p.Asp546Glu
XR_001751913.1:n.2984C>G
NM_000293.3:c.3060C>G MANE Select	NP_000284.1:p.Asp1020Glu
NM_001031835.3:c.3039C>G	NP_001027005.1:p.Asp1013Glu