Canonical Allele Identifier: CA396101211

Gene: PHKB

Linked Data

• gnomAD v4: 16-47696481-T-C
• MyVariant Identifiers: chr16:g.47730392T>C (hg19) ; chr16:g.47696481T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696481T>C , CM000678.2:g.47696481T>C	GRCh38
NC_000016.9:g.47730392T>C , CM000678.1:g.47730392T>C	GRCh37
NC_000016.8:g.46287893T>C	NCBI36
NG_016598.1:g.240183T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1570T>C	ENSP00000512887.1:n.*1570T>C
ENST00000699276.1:c.*624T>C	ENSP00000514257.1:n.*624T>C
ENST00000323584.10:c.2996T>C MANE Select	ENSP00000313504.5:p.Val999Ala
ENST00000299167.12:c.2996T>C	ENSP00000299167.8:p.Val999Ala
ENST00000323584.9:c.2996T>C	ENSP00000313504.5:p.Val999Ala
ENST00000564711.2:c.10T>C
ENST00000566044.5:c.2975T>C	ENSP00000456729.1:p.Val992Ala
ENST00000566319.2:n.1812T>C
NM_000293.2:c.2996T>C	NP_000284.1:p.Val999Ala
NM_001031835.2:c.2975T>C	NP_001027005.1:p.Val992Ala
XM_005255983.3:c.2996T>C	XP_005256040.1:p.Val999Ala
XM_005255984.3:c.2975T>C	XP_005256041.1:p.Val992Ala
XM_011523107.1:c.1574T>C	XP_011521409.1:p.Val525Ala
NM_001363837.1:c.2996T>C	NP_001350766.1:p.Val999Ala
XM_005255983.4:c.2996T>C	XP_005256040.1:p.Val999Ala
XM_005255984.4:c.2975T>C	XP_005256041.1:p.Val992Ala
XM_017023282.1:c.1883T>C	XP_016878771.1:p.Val628Ala
XM_017023283.1:c.1574T>C	XP_016878772.1:p.Val525Ala
XM_017023284.1:c.1574T>C	XP_016878773.1:p.Val525Ala
XR_001751913.1:n.2920T>C
NM_000293.3:c.2996T>C MANE Select	NP_000284.1:p.Val999Ala
NM_001031835.3:c.2975T>C	NP_001027005.1:p.Val992Ala