Canonical Allele Identifier: CA8041214

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47665944C>T , CM000678.2:g.47665944C>T	GRCh38
NC_000016.9:g.47699855C>T , CM000678.1:g.47699855C>T	GRCh37
NC_000016.8:g.46257356C>T	NCBI36
NG_016598.1:g.209646C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.2427+969C>T MANE Select	NP_000284.1:n.2427+969C>T
ENST00000323584.10:c.2427+969C>T MANE Select	ENSP00000313504.5:n.2427+969C>T
NM_000293.2:c.2427+969C>T	NP_000284.1:n.2427+969C>T
NM_001031835.2:c.2318C>T	NP_001027005.1:p.Ser773Leu
NM_001031835.3:c.2318C>T	NP_001027005.1:p.Ser773Leu
NM_001363837.1:c.2339C>T	NP_001350766.1:p.Ser780Leu
ENST00000299167.12:c.2339C>T	ENSP00000299167.8:p.Ser780Leu
ENST00000323584.9:c.2427+969C>T	ENSP00000313504.5:n.2427+969C>T
ENST00000566044.5:c.2318C>T	ENSP00000456729.1:p.Ser773Leu
ENST00000566275.2:c.260C>T	ENSP00000459287.1:p.Ser87Leu
ENST00000566319.2:n.1155C>T
ENST00000696809.1:c.*913C>T	ENSP00000512887.1:n.*913C>T
ENST00000699276.1:c.2409C>T	ENSP00000514257.1:p.Val803=
XM_005255983.3:c.2339C>T	XP_005256040.1:p.Ser780Leu
XM_005255983.4:c.2339C>T	XP_005256040.1:p.Ser780Leu
XM_005255984.3:c.2318C>T	XP_005256041.1:p.Ser773Leu
XM_005255984.4:c.2318C>T	XP_005256041.1:p.Ser773Leu
XM_011523106.1:c.2336+2210C>T	XP_011521408.1:n.2336+2210C>T
XM_011523107.1:c.917C>T	XP_011521409.1:p.Ser306Leu
XM_017023282.1:c.1226C>T	XP_016878771.1:p.Ser409Leu
XM_017023283.1:c.917C>T	XP_016878772.1:p.Ser306Leu
XM_017023284.1:c.917C>T	XP_016878773.1:p.Ser306Leu
XR_001751913.1:n.2351+2210C>T