Canonical Allele Identifier: CA396101600
Gene: PHKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47698533A>T , CM000678.2:g.47698533A>T GRCh38
NC_000016.9:g.47732444A>T , CM000678.1:g.47732444A>T GRCh37
NC_000016.8:g.46289945A>T NCBI36
NG_016598.1:g.242235A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1663A>T ENSP00000512887.1:n.*1663A>T
ENST00000699276.1:c.*717A>T ENSP00000514257.1:n.*717A>T
ENST00000323584.10:c.3089A>T MANE Select ENSP00000313504.5:p.Glu1030Val
ENST00000299167.12:c.3089A>T ENSP00000299167.8:p.Glu1030Val
ENST00000323584.9:c.3089A>T ENSP00000313504.5:p.Glu1030Val
ENST00000564711.2:c.103A>T
ENST00000566044.5:c.3068A>T ENSP00000456729.1:p.Glu1023Val
ENST00000566319.2:n.1905A>T
NM_000293.2:c.3089A>T NP_000284.1:p.Glu1030Val
NM_001031835.2:c.3068A>T NP_001027005.1:p.Glu1023Val
XM_005255983.3:c.3089A>T XP_005256040.1:p.Glu1030Val
XM_005255984.3:c.3068A>T XP_005256041.1:p.Glu1023Val
XM_011523107.1:c.1667A>T XP_011521409.1:p.Glu556Val
NM_001363837.1:c.3089A>T NP_001350766.1:p.Glu1030Val
XM_005255983.4:c.3089A>T XP_005256040.1:p.Glu1030Val
XM_005255984.4:c.3068A>T XP_005256041.1:p.Glu1023Val
XM_017023282.1:c.1976A>T XP_016878771.1:p.Glu659Val
XM_017023283.1:c.1667A>T XP_016878772.1:p.Glu556Val
XM_017023284.1:c.1667A>T XP_016878773.1:p.Glu556Val
XR_001751913.1:n.3013A>T
NM_000293.3:c.3089A>T MANE Select NP_000284.1:p.Glu1030Val
NM_001031835.3:c.3068A>T NP_001027005.1:p.Glu1023Val