Canonical Allele Identifier: CA396101074

Gene: PHKB

Linked Data

• MyVariant Identifiers: chr16:g.47730329A>T (hg19) ; chr16:g.47696418A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696418A>T , CM000678.2:g.47696418A>T	GRCh38
NC_000016.9:g.47730329A>T , CM000678.1:g.47730329A>T	GRCh37
NC_000016.8:g.46287830A>T	NCBI36
NG_016598.1:g.240120A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*1507A>T	ENSP00000512887.1:n.*1507A>T
ENST00000699276.1:c.*561A>T	ENSP00000514257.1:n.*561A>T
ENST00000323584.10:c.2933A>T MANE Select	ENSP00000313504.5:p.Asn978Ile
ENST00000299167.12:c.2933A>T	ENSP00000299167.8:p.Asn978Ile
ENST00000323584.9:c.2933A>T	ENSP00000313504.5:p.Asn978Ile
ENST00000566044.5:c.2912A>T	ENSP00000456729.1:p.Asn971Ile
ENST00000566319.2:n.1749A>T
NM_000293.2:c.2933A>T	NP_000284.1:p.Asn978Ile
NM_001031835.2:c.2912A>T	NP_001027005.1:p.Asn971Ile
XM_005255983.3:c.2933A>T	XP_005256040.1:p.Asn978Ile
XM_005255984.3:c.2912A>T	XP_005256041.1:p.Asn971Ile
XM_011523107.1:c.1511A>T	XP_011521409.1:p.Asn504Ile
NM_001363837.1:c.2933A>T	NP_001350766.1:p.Asn978Ile
XM_005255983.4:c.2933A>T	XP_005256040.1:p.Asn978Ile
XM_005255984.4:c.2912A>T	XP_005256041.1:p.Asn971Ile
XM_017023282.1:c.1820A>T	XP_016878771.1:p.Asn607Ile
XM_017023283.1:c.1511A>T	XP_016878772.1:p.Asn504Ile
XM_017023284.1:c.1511A>T	XP_016878773.1:p.Asn504Ile
XR_001751913.1:n.2857A>T
NM_000293.3:c.2933A>T MANE Select	NP_000284.1:p.Asn978Ile
NM_001031835.3:c.2912A>T	NP_001027005.1:p.Asn971Ile