Canonical Allele Identifier: CA395799726

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47596398T>G , CM000678.2:g.47596398T>G	GRCh38
NC_000016.9:g.47630309T>G , CM000678.1:g.47630309T>G	GRCh37
NC_000016.8:g.46187810T>G	NCBI36
NG_016598.1:g.140100T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.1230T>G MANE Select	NP_000284.1:p.Tyr410Ter
ENST00000323584.10:c.1230T>G MANE Select	ENSP00000313504.5:p.Tyr410Ter
NM_000293.2:c.1230T>G	NP_000284.1:p.Tyr410Ter
NM_001031835.2:c.1209T>G	NP_001027005.1:p.Tyr403Ter
NM_001031835.3:c.1209T>G	NP_001027005.1:p.Tyr403Ter
NM_001363837.1:c.1230T>G	NP_001350766.1:p.Tyr410Ter
ENST00000299167.12:c.1230T>G	ENSP00000299167.8:p.Tyr410Ter
ENST00000323584.9:c.1230T>G	ENSP00000313504.5:p.Tyr410Ter
ENST00000566044.5:c.1209T>G	ENSP00000456729.1:p.Tyr403Ter
ENST00000566436.1:n.91T>G
ENST00000696809.1:c.1209T>G	ENSP00000512887.1:p.Tyr403Ter
ENST00000699276.1:c.1209T>G	ENSP00000514257.1:p.Tyr403Ter
XM_005255983.3:c.1230T>G	XP_005256040.1:p.Tyr410Ter
XM_005255983.4:c.1230T>G	XP_005256040.1:p.Tyr410Ter
XM_005255984.3:c.1209T>G	XP_005256041.1:p.Tyr403Ter
XM_005255984.4:c.1209T>G	XP_005256041.1:p.Tyr403Ter
XM_011523106.1:c.1230T>G	XP_011521408.1:p.Tyr410Ter
XM_017023282.1:c.117T>G	XP_016878771.1:p.Tyr39Ter
XM_017023283.1:c.-276T>G	XP_016878772.1:n.-276T>G
XM_017023284.1:c.-276T>G	XP_016878773.1:n.-276T>G
XR_001751913.1:n.1245T>G