Canonical Allele Identifier: CA396099126
Gene: PHKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47503089A>G , CM000678.2:g.47503089A>G GRCh38
NC_000016.9:g.47537000A>G , CM000678.1:g.47537000A>G GRCh37
NC_000016.8:g.46094501A>G NCBI36
NG_016598.1:g.46791A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.383A>G ENSP00000512887.1:p.Lys128Arg
ENST00000699276.1:c.383A>G ENSP00000514257.1:p.Lys128Arg
ENST00000323584.10:c.404A>G MANE Select ENSP00000313504.5:p.Lys135Arg
ENST00000299167.12:c.404A>G ENSP00000299167.8:p.Lys135Arg
ENST00000323584.9:c.404A>G ENSP00000313504.5:p.Lys135Arg
ENST00000563376.5:c.383A>G ENSP00000457905.1:p.Lys128Arg
ENST00000565424.2:n.96+41663A>G
ENST00000566037.6:c.383A>G ENSP00000455664.2:p.Lys128Arg
ENST00000566044.5:c.383A>G ENSP00000456729.1:p.Lys128Arg
ENST00000567402.5:n.419A>G
ENST00000570047.2:c.238A>G
NM_000293.2:c.404A>G NP_000284.1:p.Lys135Arg
NM_001031835.2:c.383A>G NP_001027005.1:p.Lys128Arg
XM_005255983.3:c.404A>G XP_005256040.1:p.Lys135Arg
XM_005255984.3:c.383A>G XP_005256041.1:p.Lys128Arg
XM_011523106.1:c.404A>G XP_011521408.1:p.Lys135Arg
NM_001363837.1:c.404A>G NP_001350766.1:p.Lys135Arg
XM_005255983.4:c.404A>G XP_005256040.1:p.Lys135Arg
XM_005255984.4:c.383A>G XP_005256041.1:p.Lys128Arg
XM_017023283.1:c.-1102A>G XP_016878772.1:n.-1102A>G
XM_017023284.1:c.-1102A>G XP_016878773.1:n.-1102A>G
XR_001751913.1:n.419A>G
NM_000293.3:c.404A>G MANE Select NP_000284.1:p.Lys135Arg
NM_001031835.3:c.383A>G NP_001027005.1:p.Lys128Arg