Canonical Allele Identifier: CA396101136

Gene: PHKB

Linked Data

• dbSNP Id: rs776067420
• gnomAD v2: 16-47730359-G-T
• gnomAD v3: 16-47696448-G-T
• gnomAD v4: 16-47696448-G-T
• MyVariant Identifiers: chr16:g.47730359G>T (hg19) ; chr16:g.47696448G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696448G>T , CM000678.2:g.47696448G>T	GRCh38
NC_000016.9:g.47730359G>T , CM000678.1:g.47730359G>T	GRCh37
NC_000016.8:g.46287860G>T	NCBI36
NG_016598.1:g.240150G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1537G>T	ENSP00000512887.1:n.*1537G>T
ENST00000699276.1:c.*591G>T	ENSP00000514257.1:n.*591G>T
ENST00000323584.10:c.2963G>T MANE Select	ENSP00000313504.5:p.Gly988Val
ENST00000299167.12:c.2963G>T	ENSP00000299167.8:p.Gly988Val
ENST00000323584.9:c.2963G>T	ENSP00000313504.5:p.Gly988Val
ENST00000566044.5:c.2942G>T	ENSP00000456729.1:p.Gly981Val
ENST00000566319.2:n.1779G>T
NM_000293.2:c.2963G>T	NP_000284.1:p.Gly988Val
NM_001031835.2:c.2942G>T	NP_001027005.1:p.Gly981Val
XM_005255983.3:c.2963G>T	XP_005256040.1:p.Gly988Val
XM_005255984.3:c.2942G>T	XP_005256041.1:p.Gly981Val
XM_011523107.1:c.1541G>T	XP_011521409.1:p.Gly514Val
NM_001363837.1:c.2963G>T	NP_001350766.1:p.Gly988Val
XM_005255983.4:c.2963G>T	XP_005256040.1:p.Gly988Val
XM_005255984.4:c.2942G>T	XP_005256041.1:p.Gly981Val
XM_017023282.1:c.1850G>T	XP_016878771.1:p.Gly617Val
XM_017023283.1:c.1541G>T	XP_016878772.1:p.Gly514Val
XM_017023284.1:c.1541G>T	XP_016878773.1:p.Gly514Val
XR_001751913.1:n.2887G>T
NM_000293.3:c.2963G>T MANE Select	NP_000284.1:p.Gly988Val
NM_001031835.3:c.2942G>T	NP_001027005.1:p.Gly981Val