Canonical Allele Identifier: CA396101650

Gene: PHKB

Linked Data

• MyVariant Identifiers: chr16:g.47732466A>T (hg19) ; chr16:g.47698555A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698555A>T , CM000678.2:g.47698555A>T	GRCh38
NC_000016.9:g.47732466A>T , CM000678.1:g.47732466A>T	GRCh37
NC_000016.8:g.46289967A>T	NCBI36
NG_016598.1:g.242257A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1685A>T	ENSP00000512887.1:n.*1685A>T
ENST00000699276.1:c.*739A>T	ENSP00000514257.1:n.*739A>T
ENST00000323584.10:c.3111A>T MANE Select	ENSP00000313504.5:p.Lys1037Asn
ENST00000299167.12:c.3111A>T	ENSP00000299167.8:p.Lys1037Asn
ENST00000323584.9:c.3111A>T	ENSP00000313504.5:p.Lys1037Asn
ENST00000564711.2:c.125A>T
ENST00000566044.5:c.3090A>T	ENSP00000456729.1:p.Lys1030Asn
ENST00000566319.2:n.1927A>T
NM_000293.2:c.3111A>T	NP_000284.1:p.Lys1037Asn
NM_001031835.2:c.3090A>T	NP_001027005.1:p.Lys1030Asn
XM_005255983.3:c.3111A>T	XP_005256040.1:p.Lys1037Asn
XM_005255984.3:c.3090A>T	XP_005256041.1:p.Lys1030Asn
XM_011523107.1:c.1689A>T	XP_011521409.1:p.Lys563Asn
NM_001363837.1:c.3111A>T	NP_001350766.1:p.Lys1037Asn
XM_005255983.4:c.3111A>T	XP_005256040.1:p.Lys1037Asn
XM_005255984.4:c.3090A>T	XP_005256041.1:p.Lys1030Asn
XM_017023282.1:c.1998A>T	XP_016878771.1:p.Lys666Asn
XM_017023283.1:c.1689A>T	XP_016878772.1:p.Lys563Asn
XM_017023284.1:c.1689A>T	XP_016878773.1:p.Lys563Asn
XR_001751913.1:n.3035A>T
NM_000293.3:c.3111A>T MANE Select	NP_000284.1:p.Lys1037Asn
NM_001031835.3:c.3090A>T	NP_001027005.1:p.Lys1030Asn