Canonical Allele Identifier: CA396101712

Gene: PHKB

Linked Data

• gnomAD v4: 16-47698584-A-G
• MyVariant Identifiers: chr16:g.47732495A>G (hg19) ; chr16:g.47698584A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698584A>G , CM000678.2:g.47698584A>G	GRCh38
NC_000016.9:g.47732495A>G , CM000678.1:g.47732495A>G	GRCh37
NC_000016.8:g.46289996A>G	NCBI36
NG_016598.1:g.242286A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1714A>G	ENSP00000512887.1:n.*1714A>G
ENST00000699276.1:c.*768A>G	ENSP00000514257.1:n.*768A>G
ENST00000323584.10:c.3140A>G MANE Select	ENSP00000313504.5:p.Lys1047Arg
ENST00000299167.12:c.3140A>G	ENSP00000299167.8:p.Lys1047Arg
ENST00000323584.9:c.3140A>G	ENSP00000313504.5:p.Lys1047Arg
ENST00000564711.2:c.154A>G
ENST00000566044.5:c.3119A>G	ENSP00000456729.1:p.Lys1040Arg
ENST00000566319.2:n.1956A>G
NM_000293.2:c.3140A>G	NP_000284.1:p.Lys1047Arg
NM_001031835.2:c.3119A>G	NP_001027005.1:p.Lys1040Arg
XM_005255983.3:c.3140A>G	XP_005256040.1:p.Lys1047Arg
XM_005255984.3:c.3119A>G	XP_005256041.1:p.Lys1040Arg
XM_011523107.1:c.1718A>G	XP_011521409.1:p.Lys573Arg
NM_001363837.1:c.3140A>G	NP_001350766.1:p.Lys1047Arg
XM_005255983.4:c.3140A>G	XP_005256040.1:p.Lys1047Arg
XM_005255984.4:c.3119A>G	XP_005256041.1:p.Lys1040Arg
XM_017023282.1:c.2027A>G	XP_016878771.1:p.Lys676Arg
XM_017023283.1:c.1718A>G	XP_016878772.1:p.Lys573Arg
XM_017023284.1:c.1718A>G	XP_016878773.1:p.Lys573Arg
XR_001751913.1:n.3064A>G
NM_000293.3:c.3140A>G MANE Select	NP_000284.1:p.Lys1047Arg
NM_001031835.3:c.3119A>G	NP_001027005.1:p.Lys1040Arg