Canonical Allele Identifier: CA8040884

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47641658C>A , CM000678.2:g.47641658C>A	GRCh38
NC_000016.9:g.47675569C>A , CM000678.1:g.47675569C>A	GRCh37
NC_000016.8:g.46233070C>A	NCBI36
NG_016598.1:g.185360C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.1574C>A MANE Select	NP_000284.1:p.Pro525His
ENST00000323584.10:c.1574C>A MANE Select	ENSP00000313504.5:p.Pro525His
NM_000293.2:c.1574C>A	NP_000284.1:p.Pro525His
NM_001031835.2:c.1553C>A	NP_001027005.1:p.Pro518His
NM_001031835.3:c.1553C>A	NP_001027005.1:p.Pro518His
NM_001363837.1:c.1574C>A	NP_001350766.1:p.Pro525His
ENST00000299167.12:c.1574C>A	ENSP00000299167.8:p.Pro525His
ENST00000323584.9:c.1574C>A	ENSP00000313504.5:p.Pro525His
ENST00000566044.5:c.1553C>A	ENSP00000456729.1:p.Pro518His
ENST00000696809.1:c.*148C>A	ENSP00000512887.1:n.*148C>A
ENST00000699276.1:c.1553C>A	ENSP00000514257.1:p.Pro518His
XM_005255983.3:c.1574C>A	XP_005256040.1:p.Pro525His
XM_005255983.4:c.1574C>A	XP_005256040.1:p.Pro525His
XM_005255984.3:c.1553C>A	XP_005256041.1:p.Pro518His
XM_005255984.4:c.1553C>A	XP_005256041.1:p.Pro518His
XM_011523106.1:c.1574C>A	XP_011521408.1:p.Pro525His
XM_011523107.1:c.152C>A	XP_011521409.1:p.Pro51His
XM_017023282.1:c.461C>A	XP_016878771.1:p.Pro154His
XM_017023283.1:c.152C>A	XP_016878772.1:p.Pro51His
XM_017023284.1:c.152C>A	XP_016878773.1:p.Pro51His
XR_001751913.1:n.1589C>A