Canonical Allele Identifier: CA396101201

Gene: PHKB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1566A>C	ENSP00000512887.1:n.*1566A>C
ENST00000699276.1:c.*620A>C	ENSP00000514257.1:n.*620A>C
ENST00000323584.10:c.2992A>C MANE Select	ENSP00000313504.5:p.Ile998Leu
ENST00000299167.12:c.2992A>C	ENSP00000299167.8:p.Ile998Leu
ENST00000323584.9:c.2992A>C	ENSP00000313504.5:p.Ile998Leu
ENST00000564711.2:c.6A>C
ENST00000566044.5:c.2971A>C	ENSP00000456729.1:p.Ile991Leu
ENST00000566319.2:n.1808A>C
NM_000293.2:c.2992A>C	NP_000284.1:p.Ile998Leu
NM_001031835.2:c.2971A>C	NP_001027005.1:p.Ile991Leu
XM_005255983.3:c.2992A>C	XP_005256040.1:p.Ile998Leu
XM_005255984.3:c.2971A>C	XP_005256041.1:p.Ile991Leu
XM_011523107.1:c.1570A>C	XP_011521409.1:p.Ile524Leu
NM_001363837.1:c.2992A>C	NP_001350766.1:p.Ile998Leu
XM_005255983.4:c.2992A>C	XP_005256040.1:p.Ile998Leu
XM_005255984.4:c.2971A>C	XP_005256041.1:p.Ile991Leu
XM_017023282.1:c.1879A>C	XP_016878771.1:p.Ile627Leu
XM_017023283.1:c.1570A>C	XP_016878772.1:p.Ile524Leu
XM_017023284.1:c.1570A>C	XP_016878773.1:p.Ile524Leu
XR_001751913.1:n.2916A>C
NM_000293.3:c.2992A>C MANE Select	NP_000284.1:p.Ile998Leu
NM_001031835.3:c.2971A>C	NP_001027005.1:p.Ile991Leu