Canonical Allele Identifier: CA8041429

Gene: PHKB

Linked Data

• dbSNP Id: rs773001290
• ExAC: 16:47732455 G / A
• gnomAD v2: 16-47732455-G-A
• gnomAD v3: 16-47698544-G-A
• gnomAD v4: 16-47698544-G-A
• MyVariant Identifiers: chr16:g.47732455G>A (hg19) ; chr16:g.47698544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698544G>A , CM000678.2:g.47698544G>A	GRCh38
NC_000016.9:g.47732455G>A , CM000678.1:g.47732455G>A	GRCh37
NC_000016.8:g.46289956G>A	NCBI36
NG_016598.1:g.242246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1674G>A	ENSP00000512887.1:n.*1674G>A
ENST00000699276.1:c.*728G>A	ENSP00000514257.1:n.*728G>A
ENST00000323584.10:c.3100G>A MANE Select	ENSP00000313504.5:p.Glu1034Lys
ENST00000299167.12:c.3100G>A	ENSP00000299167.8:p.Glu1034Lys
ENST00000323584.9:c.3100G>A	ENSP00000313504.5:p.Glu1034Lys
ENST00000564711.2:c.114G>A
ENST00000566044.5:c.3079G>A	ENSP00000456729.1:p.Glu1027Lys
ENST00000566319.2:n.1916G>A
NM_000293.2:c.3100G>A	NP_000284.1:p.Glu1034Lys
NM_001031835.2:c.3079G>A	NP_001027005.1:p.Glu1027Lys
XM_005255983.3:c.3100G>A	XP_005256040.1:p.Glu1034Lys
XM_005255984.3:c.3079G>A	XP_005256041.1:p.Glu1027Lys
XM_011523107.1:c.1678G>A	XP_011521409.1:p.Glu560Lys
NM_001363837.1:c.3100G>A	NP_001350766.1:p.Glu1034Lys
XM_005255983.4:c.3100G>A	XP_005256040.1:p.Glu1034Lys
XM_005255984.4:c.3079G>A	XP_005256041.1:p.Glu1027Lys
XM_017023282.1:c.1987G>A	XP_016878771.1:p.Glu663Lys
XM_017023283.1:c.1678G>A	XP_016878772.1:p.Glu560Lys
XM_017023284.1:c.1678G>A	XP_016878773.1:p.Glu560Lys
XR_001751913.1:n.3024G>A
NM_000293.3:c.3100G>A MANE Select	NP_000284.1:p.Glu1034Lys
NM_001031835.3:c.3079G>A	NP_001027005.1:p.Glu1027Lys