Canonical Allele Identifier: CA396101101

Gene: PHKB

Linked Data

• MyVariant Identifiers: chr16:g.47730343G>C (hg19) ; chr16:g.47696432G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696432G>C , CM000678.2:g.47696432G>C	GRCh38
NC_000016.9:g.47730343G>C , CM000678.1:g.47730343G>C	GRCh37
NC_000016.8:g.46287844G>C	NCBI36
NG_016598.1:g.240134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1521G>C	ENSP00000512887.1:n.*1521G>C
ENST00000699276.1:c.*575G>C	ENSP00000514257.1:n.*575G>C
ENST00000323584.10:c.2947G>C MANE Select	ENSP00000313504.5:p.Val983Leu
ENST00000299167.12:c.2947G>C	ENSP00000299167.8:p.Val983Leu
ENST00000323584.9:c.2947G>C	ENSP00000313504.5:p.Val983Leu
ENST00000566044.5:c.2926G>C	ENSP00000456729.1:p.Val976Leu
ENST00000566319.2:n.1763G>C
NM_000293.2:c.2947G>C	NP_000284.1:p.Val983Leu
NM_001031835.2:c.2926G>C	NP_001027005.1:p.Val976Leu
XM_005255983.3:c.2947G>C	XP_005256040.1:p.Val983Leu
XM_005255984.3:c.2926G>C	XP_005256041.1:p.Val976Leu
XM_011523107.1:c.1525G>C	XP_011521409.1:p.Val509Leu
NM_001363837.1:c.2947G>C	NP_001350766.1:p.Val983Leu
XM_005255983.4:c.2947G>C	XP_005256040.1:p.Val983Leu
XM_005255984.4:c.2926G>C	XP_005256041.1:p.Val976Leu
XM_017023282.1:c.1834G>C	XP_016878771.1:p.Val612Leu
XM_017023283.1:c.1525G>C	XP_016878772.1:p.Val509Leu
XM_017023284.1:c.1525G>C	XP_016878773.1:p.Val509Leu
XR_001751913.1:n.2871G>C
NM_000293.3:c.2947G>C MANE Select	NP_000284.1:p.Val983Leu
NM_001031835.3:c.2926G>C	NP_001027005.1:p.Val976Leu