Canonical Allele Identifier: CA8041487

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47699300G>A , CM000678.2:g.47699300G>A	GRCh38
NC_000016.9:g.47733211G>A , CM000678.1:g.47733211G>A	GRCh37
NC_000016.8:g.46290712G>A	NCBI36
NG_016598.1:g.243002G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.3216G>A MANE Select	NP_000284.1:p.Ala1072=
ENST00000323584.10:c.3216G>A MANE Select	ENSP00000313504.5:p.Ala1072=
NM_000293.2:c.3216G>A	NP_000284.1:p.Ala1072=
NM_001031835.2:c.3195G>A	NP_001027005.1:p.Ala1065=
NM_001031835.3:c.3195G>A	NP_001027005.1:p.Ala1065=
NM_001363837.1:c.3216G>A	NP_001350766.1:p.Ala1072=
ENST00000299167.12:c.3216G>A	ENSP00000299167.8:p.Ala1072=
ENST00000323584.9:c.3216G>A	ENSP00000313504.5:p.Ala1072=
ENST00000564711.2:c.303G>A
ENST00000566044.5:c.3195G>A	ENSP00000456729.1:p.Ala1065=
ENST00000566319.2:n.2032G>A
ENST00000696809.1:c.*1790G>A	ENSP00000512887.1:n.*1790G>A
ENST00000699276.1:c.*844G>A	ENSP00000514257.1:n.*844G>A
XM_005255983.3:c.3216G>A	XP_005256040.1:p.Ala1072=
XM_005255983.4:c.3216G>A	XP_005256040.1:p.Ala1072=
XM_005255984.3:c.3195G>A	XP_005256041.1:p.Ala1065=
XM_005255984.4:c.3195G>A	XP_005256041.1:p.Ala1065=
XM_011523107.1:c.1794G>A	XP_011521409.1:p.Ala598=
XM_017023282.1:c.2103G>A	XP_016878771.1:p.Ala701=
XM_017023283.1:c.1794G>A	XP_016878772.1:p.Ala598=
XM_017023284.1:c.1794G>A	XP_016878773.1:p.Ala598=
XR_001751913.1:n.3140G>A