Canonical Allele Identifier: CA8040462

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47503085G>A , CM000678.2:g.47503085G>A	GRCh38
NC_000016.9:g.47536996G>A , CM000678.1:g.47536996G>A	GRCh37
NC_000016.8:g.46094497G>A	NCBI36
NG_016598.1:g.46787G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.400G>A MANE Select	NP_000284.1:p.Asp134Asn
ENST00000323584.10:c.400G>A MANE Select	ENSP00000313504.5:p.Asp134Asn
NM_000293.2:c.400G>A	NP_000284.1:p.Asp134Asn
NM_001031835.2:c.379G>A	NP_001027005.1:p.Asp127Asn
NM_001031835.3:c.379G>A	NP_001027005.1:p.Asp127Asn
NM_001363837.1:c.400G>A	NP_001350766.1:p.Asp134Asn
ENST00000299167.12:c.400G>A	ENSP00000299167.8:p.Asp134Asn
ENST00000323584.9:c.400G>A	ENSP00000313504.5:p.Asp134Asn
ENST00000563376.5:c.379G>A	ENSP00000457905.1:p.Asp127Asn
ENST00000565424.2:n.96+41659G>A
ENST00000566037.6:c.379G>A	ENSP00000455664.2:p.Asp127Asn
ENST00000566044.5:c.379G>A	ENSP00000456729.1:p.Asp127Asn
ENST00000567402.5:n.415G>A
ENST00000570047.2:c.234G>A
ENST00000696809.1:c.379G>A	ENSP00000512887.1:p.Asp127Asn
ENST00000699276.1:c.379G>A	ENSP00000514257.1:p.Asp127Asn
XM_005255983.3:c.400G>A	XP_005256040.1:p.Asp134Asn
XM_005255983.4:c.400G>A	XP_005256040.1:p.Asp134Asn
XM_005255984.3:c.379G>A	XP_005256041.1:p.Asp127Asn
XM_005255984.4:c.379G>A	XP_005256041.1:p.Asp127Asn
XM_011523106.1:c.400G>A	XP_011521408.1:p.Asp134Asn
XM_017023283.1:c.-1106G>A	XP_016878772.1:n.-1106G>A
XM_017023284.1:c.-1106G>A	XP_016878773.1:n.-1106G>A
XR_001751913.1:n.415G>A