Canonical Allele Identifier: CA8041380
Gene: PHKB HGNC NCBI

Linked Data

dbSNP Id: rs755436316

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696433T>C , CM000678.2:g.47696433T>C GRCh38
NC_000016.9:g.47730344T>C , CM000678.1:g.47730344T>C GRCh37
NC_000016.8:g.46287845T>C NCBI36
NG_016598.1:g.240135T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1522T>C ENSP00000512887.1:n.*1522T>C
ENST00000699276.1:c.*576T>C ENSP00000514257.1:n.*576T>C
ENST00000323584.10:c.2948T>C MANE Select ENSP00000313504.5:p.Val983Ala
ENST00000299167.12:c.2948T>C ENSP00000299167.8:p.Val983Ala
ENST00000323584.9:c.2948T>C ENSP00000313504.5:p.Val983Ala
ENST00000566044.5:c.2927T>C ENSP00000456729.1:p.Val976Ala
ENST00000566319.2:n.1764T>C
NM_000293.2:c.2948T>C NP_000284.1:p.Val983Ala
NM_001031835.2:c.2927T>C NP_001027005.1:p.Val976Ala
XM_005255983.3:c.2948T>C XP_005256040.1:p.Val983Ala
XM_005255984.3:c.2927T>C XP_005256041.1:p.Val976Ala
XM_011523107.1:c.1526T>C XP_011521409.1:p.Val509Ala
NM_001363837.1:c.2948T>C NP_001350766.1:p.Val983Ala
XM_005255983.4:c.2948T>C XP_005256040.1:p.Val983Ala
XM_005255984.4:c.2927T>C XP_005256041.1:p.Val976Ala
XM_017023282.1:c.1835T>C XP_016878771.1:p.Val612Ala
XM_017023283.1:c.1526T>C XP_016878772.1:p.Val509Ala
XM_017023284.1:c.1526T>C XP_016878773.1:p.Val509Ala
XR_001751913.1:n.2872T>C
NM_000293.3:c.2948T>C MANE Select NP_000284.1:p.Val983Ala
NM_001031835.3:c.2927T>C NP_001027005.1:p.Val976Ala