Canonical Allele Identifier: CA8041356
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47693494A>T , CM000678.2:g.47693494A>T GRCh38
NC_000016.9:g.47727405A>T , CM000678.1:g.47727405A>T GRCh37
NC_000016.8:g.46284906A>T NCBI36
NG_016598.1:g.237196A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000293.3:c.2882A>T MANE Select NP_000284.1:p.Lys961Met
ENST00000323584.10:c.2882A>T MANE Select ENSP00000313504.5:p.Lys961Met
NM_000293.2:c.2882A>T NP_000284.1:p.Lys961Met
NM_001031835.2:c.2861A>T NP_001027005.1:p.Lys954Met
NM_001031835.3:c.2861A>T NP_001027005.1:p.Lys954Met
NM_001363837.1:c.2882A>T NP_001350766.1:p.Lys961Met
ENST00000299167.12:c.2882A>T ENSP00000299167.8:p.Lys961Met
ENST00000323584.9:c.2882A>T ENSP00000313504.5:p.Lys961Met
ENST00000566044.5:c.2861A>T ENSP00000456729.1:p.Lys954Met
ENST00000566319.2:n.1698A>T
ENST00000696809.1:c.*1456A>T ENSP00000512887.1:n.*1456A>T
ENST00000699276.1:c.*510A>T ENSP00000514257.1:n.*510A>T
XM_005255983.3:c.2882A>T XP_005256040.1:p.Lys961Met
XM_005255983.4:c.2882A>T XP_005256040.1:p.Lys961Met
XM_005255984.3:c.2861A>T XP_005256041.1:p.Lys954Met
XM_005255984.4:c.2861A>T XP_005256041.1:p.Lys954Met
XM_011523107.1:c.1460A>T XP_011521409.1:p.Lys487Met
XM_017023282.1:c.1769A>T XP_016878771.1:p.Lys590Met
XM_017023283.1:c.1460A>T XP_016878772.1:p.Lys487Met
XM_017023284.1:c.1460A>T XP_016878773.1:p.Lys487Met
XR_001751913.1:n.2806A>T