Canonical Allele Identifier: CA396101120
Gene: PHKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696440C>G , CM000678.2:g.47696440C>G GRCh38
NC_000016.9:g.47730351C>G , CM000678.1:g.47730351C>G GRCh37
NC_000016.8:g.46287852C>G NCBI36
NG_016598.1:g.240142C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1529C>G ENSP00000512887.1:n.*1529C>G
ENST00000699276.1:c.*583C>G ENSP00000514257.1:n.*583C>G
ENST00000323584.10:c.2955C>G MANE Select ENSP00000313504.5:p.Asp985Glu
ENST00000299167.12:c.2955C>G ENSP00000299167.8:p.Asp985Glu
ENST00000323584.9:c.2955C>G ENSP00000313504.5:p.Asp985Glu
ENST00000566044.5:c.2934C>G ENSP00000456729.1:p.Asp978Glu
ENST00000566319.2:n.1771C>G
NM_000293.2:c.2955C>G NP_000284.1:p.Asp985Glu
NM_001031835.2:c.2934C>G NP_001027005.1:p.Asp978Glu
XM_005255983.3:c.2955C>G XP_005256040.1:p.Asp985Glu
XM_005255984.3:c.2934C>G XP_005256041.1:p.Asp978Glu
XM_011523107.1:c.1533C>G XP_011521409.1:p.Asp511Glu
NM_001363837.1:c.2955C>G NP_001350766.1:p.Asp985Glu
XM_005255983.4:c.2955C>G XP_005256040.1:p.Asp985Glu
XM_005255984.4:c.2934C>G XP_005256041.1:p.Asp978Glu
XM_017023282.1:c.1842C>G XP_016878771.1:p.Asp614Glu
XM_017023283.1:c.1533C>G XP_016878772.1:p.Asp511Glu
XM_017023284.1:c.1533C>G XP_016878773.1:p.Asp511Glu
XR_001751913.1:n.2879C>G
NM_000293.3:c.2955C>G MANE Select NP_000284.1:p.Asp985Glu
NM_001031835.3:c.2934C>G NP_001027005.1:p.Asp978Glu