Canonical Allele Identifier: CA396101203

Gene: PHKB

Linked Data

• MyVariant Identifiers: chr16:g.47730388A>T (hg19) ; chr16:g.47696477A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696477A>T , CM000678.2:g.47696477A>T	GRCh38
NC_000016.9:g.47730388A>T , CM000678.1:g.47730388A>T	GRCh37
NC_000016.8:g.46287889A>T	NCBI36
NG_016598.1:g.240179A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1566A>T	ENSP00000512887.1:n.*1566A>T
ENST00000699276.1:c.*620A>T	ENSP00000514257.1:n.*620A>T
ENST00000323584.10:c.2992A>T MANE Select	ENSP00000313504.5:p.Ile998Phe
ENST00000299167.12:c.2992A>T	ENSP00000299167.8:p.Ile998Phe
ENST00000323584.9:c.2992A>T	ENSP00000313504.5:p.Ile998Phe
ENST00000564711.2:c.6A>T
ENST00000566044.5:c.2971A>T	ENSP00000456729.1:p.Ile991Phe
ENST00000566319.2:n.1808A>T
NM_000293.2:c.2992A>T	NP_000284.1:p.Ile998Phe
NM_001031835.2:c.2971A>T	NP_001027005.1:p.Ile991Phe
XM_005255983.3:c.2992A>T	XP_005256040.1:p.Ile998Phe
XM_005255984.3:c.2971A>T	XP_005256041.1:p.Ile991Phe
XM_011523107.1:c.1570A>T	XP_011521409.1:p.Ile524Phe
NM_001363837.1:c.2992A>T	NP_001350766.1:p.Ile998Phe
XM_005255983.4:c.2992A>T	XP_005256040.1:p.Ile998Phe
XM_005255984.4:c.2971A>T	XP_005256041.1:p.Ile991Phe
XM_017023282.1:c.1879A>T	XP_016878771.1:p.Ile627Phe
XM_017023283.1:c.1570A>T	XP_016878772.1:p.Ile524Phe
XM_017023284.1:c.1570A>T	XP_016878773.1:p.Ile524Phe
XR_001751913.1:n.2916A>T
NM_000293.3:c.2992A>T MANE Select	NP_000284.1:p.Ile998Phe
NM_001031835.3:c.2971A>T	NP_001027005.1:p.Ile991Phe