Canonical Allele Identifier: CA8040455

Gene: PHKB

Linked Data

• ClinVar Variation Id: 319331
• ClinVar RCV Id: RCV000387522
• dbSNP Id: rs749597903
• ExAC: 16:47536966 G / C
• gnomAD v2: 16-47536966-G-C
• gnomAD v3: 16-47503055-G-C
• gnomAD v4: 16-47503055-G-C
• MyVariant Identifiers: chr16:g.47536966G>C (hg19) ; chr16:g.47503055G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47503055G>C , CM000678.2:g.47503055G>C	GRCh38
NC_000016.9:g.47536966G>C , CM000678.1:g.47536966G>C	GRCh37
NC_000016.8:g.46094467G>C	NCBI36
NG_016598.1:g.46757G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.349G>C	ENSP00000512887.1:p.Gly117Arg
ENST00000699276.1:c.349G>C	ENSP00000514257.1:p.Gly117Arg
ENST00000323584.10:c.370G>C MANE Select	ENSP00000313504.5:p.Gly124Arg
ENST00000299167.12:c.370G>C	ENSP00000299167.8:p.Gly124Arg
ENST00000323584.9:c.370G>C	ENSP00000313504.5:p.Gly124Arg
ENST00000563376.5:c.349G>C	ENSP00000457905.1:p.Gly117Arg
ENST00000565424.2:n.96+41629G>C
ENST00000566037.6:c.349G>C	ENSP00000455664.2:p.Gly117Arg
ENST00000566044.5:c.349G>C	ENSP00000456729.1:p.Gly117Arg
ENST00000567402.5:n.385G>C
ENST00000570047.2:c.204G>C
NM_000293.2:c.370G>C	NP_000284.1:p.Gly124Arg
NM_001031835.2:c.349G>C	NP_001027005.1:p.Gly117Arg
XM_005255983.3:c.370G>C	XP_005256040.1:p.Gly124Arg
XM_005255984.3:c.349G>C	XP_005256041.1:p.Gly117Arg
XM_011523106.1:c.370G>C	XP_011521408.1:p.Gly124Arg
NM_001363837.1:c.370G>C	NP_001350766.1:p.Gly124Arg
XM_005255983.4:c.370G>C	XP_005256040.1:p.Gly124Arg
XM_005255984.4:c.349G>C	XP_005256041.1:p.Gly117Arg
XM_017023283.1:c.-1136G>C	XP_016878772.1:n.-1136G>C
XM_017023284.1:c.-1136G>C	XP_016878773.1:n.-1136G>C
XR_001751913.1:n.385G>C
NM_000293.3:c.370G>C MANE Select	NP_000284.1:p.Gly124Arg
NM_001031835.3:c.349G>C	NP_001027005.1:p.Gly117Arg