Canonical Allele Identifier: CA396101117
Gene: PHKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696439A>G , CM000678.2:g.47696439A>G GRCh38
NC_000016.9:g.47730350A>G , CM000678.1:g.47730350A>G GRCh37
NC_000016.8:g.46287851A>G NCBI36
NG_016598.1:g.240141A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1528A>G ENSP00000512887.1:n.*1528A>G
ENST00000699276.1:c.*582A>G ENSP00000514257.1:n.*582A>G
ENST00000323584.10:c.2954A>G MANE Select ENSP00000313504.5:p.Asp985Gly
ENST00000299167.12:c.2954A>G ENSP00000299167.8:p.Asp985Gly
ENST00000323584.9:c.2954A>G ENSP00000313504.5:p.Asp985Gly
ENST00000566044.5:c.2933A>G ENSP00000456729.1:p.Asp978Gly
ENST00000566319.2:n.1770A>G
NM_000293.2:c.2954A>G NP_000284.1:p.Asp985Gly
NM_001031835.2:c.2933A>G NP_001027005.1:p.Asp978Gly
XM_005255983.3:c.2954A>G XP_005256040.1:p.Asp985Gly
XM_005255984.3:c.2933A>G XP_005256041.1:p.Asp978Gly
XM_011523107.1:c.1532A>G XP_011521409.1:p.Asp511Gly
NM_001363837.1:c.2954A>G NP_001350766.1:p.Asp985Gly
XM_005255983.4:c.2954A>G XP_005256040.1:p.Asp985Gly
XM_005255984.4:c.2933A>G XP_005256041.1:p.Asp978Gly
XM_017023282.1:c.1841A>G XP_016878771.1:p.Asp614Gly
XM_017023283.1:c.1532A>G XP_016878772.1:p.Asp511Gly
XM_017023284.1:c.1532A>G XP_016878773.1:p.Asp511Gly
XR_001751913.1:n.2878A>G
NM_000293.3:c.2954A>G MANE Select NP_000284.1:p.Asp985Gly
NM_001031835.3:c.2933A>G NP_001027005.1:p.Asp978Gly