Canonical Allele Identifier: CA495361381
Gene: PHKB HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.47730333C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696422C>T , CM000678.2:g.47696422C>T GRCh38
NC_000016.9:g.47730333C>T , CM000678.1:g.47730333C>T GRCh37
NC_000016.8:g.46287834C>T NCBI36
NG_016598.1:g.240124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1511C>T ENSP00000512887.1:n.*1511C>T
ENST00000699276.1:c.*565C>T ENSP00000514257.1:n.*565C>T
ENST00000323584.10:c.2937C>T MANE Select ENSP00000313504.5:p.Phe979=
ENST00000299167.12:c.2937C>T ENSP00000299167.8:p.Phe979=
ENST00000323584.9:c.2937C>T ENSP00000313504.5:p.Phe979=
ENST00000566044.5:c.2916C>T ENSP00000456729.1:p.Phe972=
ENST00000566319.2:n.1753C>T
NM_000293.2:c.2937C>T NP_000284.1:p.Phe979=
NM_001031835.2:c.2916C>T NP_001027005.1:p.Phe972=
XM_005255983.3:c.2937C>T XP_005256040.1:p.Phe979=
XM_005255984.3:c.2916C>T XP_005256041.1:p.Phe972=
XM_011523107.1:c.1515C>T XP_011521409.1:p.Phe505=
NM_001363837.1:c.2937C>T NP_001350766.1:p.Phe979=
XM_005255983.4:c.2937C>T XP_005256040.1:p.Phe979=
XM_005255984.4:c.2916C>T XP_005256041.1:p.Phe972=
XM_017023282.1:c.1824C>T XP_016878771.1:p.Phe608=
XM_017023283.1:c.1515C>T XP_016878772.1:p.Phe505=
XM_017023284.1:c.1515C>T XP_016878773.1:p.Phe505=
XR_001751913.1:n.2861C>T
NM_000293.3:c.2937C>T MANE Select NP_000284.1:p.Phe979=
NM_001031835.3:c.2916C>T NP_001027005.1:p.Phe972=