Canonical Allele Identifier: CA396101197
Gene: PHKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696475A>T , CM000678.2:g.47696475A>T GRCh38
NC_000016.9:g.47730386A>T , CM000678.1:g.47730386A>T GRCh37
NC_000016.8:g.46287887A>T NCBI36
NG_016598.1:g.240177A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1564A>T ENSP00000512887.1:n.*1564A>T
ENST00000699276.1:c.*618A>T ENSP00000514257.1:n.*618A>T
ENST00000323584.10:c.2990A>T MANE Select ENSP00000313504.5:p.Gln997Leu
ENST00000299167.12:c.2990A>T ENSP00000299167.8:p.Gln997Leu
ENST00000323584.9:c.2990A>T ENSP00000313504.5:p.Gln997Leu
ENST00000564711.2:c.4A>T
ENST00000566044.5:c.2969A>T ENSP00000456729.1:p.Gln990Leu
ENST00000566319.2:n.1806A>T
NM_000293.2:c.2990A>T NP_000284.1:p.Gln997Leu
NM_001031835.2:c.2969A>T NP_001027005.1:p.Gln990Leu
XM_005255983.3:c.2990A>T XP_005256040.1:p.Gln997Leu
XM_005255984.3:c.2969A>T XP_005256041.1:p.Gln990Leu
XM_011523107.1:c.1568A>T XP_011521409.1:p.Gln523Leu
NM_001363837.1:c.2990A>T NP_001350766.1:p.Gln997Leu
XM_005255983.4:c.2990A>T XP_005256040.1:p.Gln997Leu
XM_005255984.4:c.2969A>T XP_005256041.1:p.Gln990Leu
XM_017023282.1:c.1877A>T XP_016878771.1:p.Gln626Leu
XM_017023283.1:c.1568A>T XP_016878772.1:p.Gln523Leu
XM_017023284.1:c.1568A>T XP_016878773.1:p.Gln523Leu
XR_001751913.1:n.2914A>T
NM_000293.3:c.2990A>T MANE Select NP_000284.1:p.Gln997Leu
NM_001031835.3:c.2969A>T NP_001027005.1:p.Gln990Leu