Canonical Allele Identifier: CA395786868
Gene: PHKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47650837C>G , CM000678.2:g.47650837C>G GRCh38
NC_000016.9:g.47684748C>G , CM000678.1:g.47684748C>G GRCh37
NC_000016.8:g.46242249C>G NCBI36
NG_016598.1:g.194539C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696809.1:c.*461C>G ENSP00000512887.1:n.*461C>G
ENST00000699276.1:c.1866C>G ENSP00000514257.1:p.Ser622Arg
ENST00000323584.10:c.1887C>G MANE Select ENSP00000313504.5:p.Ser629Arg
ENST00000299167.12:c.1887C>G ENSP00000299167.8:p.Ser629Arg
ENST00000323584.9:c.1887C>G ENSP00000313504.5:p.Ser629Arg
ENST00000566044.5:c.1866C>G ENSP00000456729.1:p.Ser622Arg
ENST00000568171.1:n.8C>G
NM_000293.2:c.1887C>G NP_000284.1:p.Ser629Arg
NM_001031835.2:c.1866C>G NP_001027005.1:p.Ser622Arg
XM_005255983.3:c.1887C>G XP_005256040.1:p.Ser629Arg
XM_005255984.3:c.1866C>G XP_005256041.1:p.Ser622Arg
XM_011523106.1:c.1887C>G XP_011521408.1:p.Ser629Arg
XM_011523107.1:c.465C>G XP_011521409.1:p.Ser155Arg
NM_001363837.1:c.1887C>G NP_001350766.1:p.Ser629Arg
XM_005255983.4:c.1887C>G XP_005256040.1:p.Ser629Arg
XM_005255984.4:c.1866C>G XP_005256041.1:p.Ser622Arg
XM_017023282.1:c.774C>G XP_016878771.1:p.Ser258Arg
XM_017023283.1:c.465C>G XP_016878772.1:p.Ser155Arg
XM_017023284.1:c.465C>G XP_016878773.1:p.Ser155Arg
XR_001751913.1:n.1902C>G
NM_000293.3:c.1887C>G MANE Select NP_000284.1:p.Ser629Arg
NM_001031835.3:c.1866C>G NP_001027005.1:p.Ser622Arg