Canonical Allele Identifier: CA395799852

Gene: PHKB

Linked Data

• MyVariant Identifiers: chr16:g.47630339A>T (hg19) ; chr16:g.47596428A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47596428A>T , CM000678.2:g.47596428A>T	GRCh38
NC_000016.9:g.47630339A>T , CM000678.1:g.47630339A>T	GRCh37
NC_000016.8:g.46187840A>T	NCBI36
NG_016598.1:g.140130A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.1239A>T	ENSP00000512887.1:p.Glu413Asp
ENST00000699276.1:c.1239A>T	ENSP00000514257.1:p.Glu413Asp
ENST00000323584.10:c.1260A>T MANE Select	ENSP00000313504.5:p.Glu420Asp
ENST00000299167.12:c.1260A>T	ENSP00000299167.8:p.Glu420Asp
ENST00000323584.9:c.1260A>T	ENSP00000313504.5:p.Glu420Asp
ENST00000566044.5:c.1239A>T	ENSP00000456729.1:p.Glu413Asp
ENST00000566436.1:n.121A>T
ENST00000568439.1:c.1A>T
NM_000293.2:c.1260A>T	NP_000284.1:p.Glu420Asp
NM_001031835.2:c.1239A>T	NP_001027005.1:p.Glu413Asp
XM_005255983.3:c.1260A>T	XP_005256040.1:p.Glu420Asp
XM_005255984.3:c.1239A>T	XP_005256041.1:p.Glu413Asp
XM_011523106.1:c.1260A>T	XP_011521408.1:p.Glu420Asp
NM_001363837.1:c.1260A>T	NP_001350766.1:p.Glu420Asp
XM_005255983.4:c.1260A>T	XP_005256040.1:p.Glu420Asp
XM_005255984.4:c.1239A>T	XP_005256041.1:p.Glu413Asp
XM_017023282.1:c.147A>T	XP_016878771.1:p.Glu49Asp
XM_017023283.1:c.-246A>T	XP_016878772.1:n.-246A>T
XM_017023284.1:c.-246A>T	XP_016878773.1:n.-246A>T
XR_001751913.1:n.1275A>T
NM_000293.3:c.1260A>T MANE Select	NP_000284.1:p.Glu420Asp
NM_001031835.3:c.1239A>T	NP_001027005.1:p.Glu413Asp