Canonical Allele Identifier: CA396101559

Gene: PHKB

Linked Data

• MyVariant Identifiers: chr16:g.47732424T>A (hg19) ; chr16:g.47698513T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698513T>A , CM000678.2:g.47698513T>A	GRCh38
NC_000016.9:g.47732424T>A , CM000678.1:g.47732424T>A	GRCh37
NC_000016.8:g.46289925T>A	NCBI36
NG_016598.1:g.242215T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1643T>A	ENSP00000512887.1:n.*1643T>A
ENST00000699276.1:c.*697T>A	ENSP00000514257.1:n.*697T>A
ENST00000323584.10:c.3069T>A MANE Select	ENSP00000313504.5:p.Asp1023Glu
ENST00000299167.12:c.3069T>A	ENSP00000299167.8:p.Asp1023Glu
ENST00000323584.9:c.3069T>A	ENSP00000313504.5:p.Asp1023Glu
ENST00000564711.2:c.83T>A
ENST00000566044.5:c.3048T>A	ENSP00000456729.1:p.Asp1016Glu
ENST00000566319.2:n.1885T>A
NM_000293.2:c.3069T>A	NP_000284.1:p.Asp1023Glu
NM_001031835.2:c.3048T>A	NP_001027005.1:p.Asp1016Glu
XM_005255983.3:c.3069T>A	XP_005256040.1:p.Asp1023Glu
XM_005255984.3:c.3048T>A	XP_005256041.1:p.Asp1016Glu
XM_011523107.1:c.1647T>A	XP_011521409.1:p.Asp549Glu
NM_001363837.1:c.3069T>A	NP_001350766.1:p.Asp1023Glu
XM_005255983.4:c.3069T>A	XP_005256040.1:p.Asp1023Glu
XM_005255984.4:c.3048T>A	XP_005256041.1:p.Asp1016Glu
XM_017023282.1:c.1956T>A	XP_016878771.1:p.Asp652Glu
XM_017023283.1:c.1647T>A	XP_016878772.1:p.Asp549Glu
XM_017023284.1:c.1647T>A	XP_016878773.1:p.Asp549Glu
XR_001751913.1:n.2993T>A
NM_000293.3:c.3069T>A MANE Select	NP_000284.1:p.Asp1023Glu
NM_001031835.3:c.3048T>A	NP_001027005.1:p.Asp1016Glu