Canonical Allele Identifier: CA8040454

Gene: PHKB

Linked Data

• dbSNP Id: rs142404586
• ExAC: 16:47536951 A / G
• gnomAD v2: 16-47536951-A-G
• gnomAD v3: 16-47503040-A-G
• gnomAD v4: 16-47503040-A-G
• MyVariant Identifiers: chr16:g.47536951A>G (hg19) ; chr16:g.47503040A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47503040A>G , CM000678.2:g.47503040A>G	GRCh38
NC_000016.9:g.47536951A>G , CM000678.1:g.47536951A>G	GRCh37
NC_000016.8:g.46094452A>G	NCBI36
NG_016598.1:g.46742A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.334A>G	ENSP00000512887.1:p.Ile112Val
ENST00000699276.1:c.334A>G	ENSP00000514257.1:p.Ile112Val
ENST00000323584.10:c.355A>G MANE Select	ENSP00000313504.5:p.Ile119Val
ENST00000299167.12:c.355A>G	ENSP00000299167.8:p.Ile119Val
ENST00000323584.9:c.355A>G	ENSP00000313504.5:p.Ile119Val
ENST00000563376.5:c.334A>G	ENSP00000457905.1:p.Ile112Val
ENST00000565424.2:n.96+41614A>G
ENST00000566037.6:c.334A>G	ENSP00000455664.2:p.Ile112Val
ENST00000566044.5:c.334A>G	ENSP00000456729.1:p.Ile112Val
ENST00000567402.5:n.370A>G
ENST00000570047.2:c.189A>G
NM_000293.2:c.355A>G	NP_000284.1:p.Ile119Val
NM_001031835.2:c.334A>G	NP_001027005.1:p.Ile112Val
XM_005255983.3:c.355A>G	XP_005256040.1:p.Ile119Val
XM_005255984.3:c.334A>G	XP_005256041.1:p.Ile112Val
XM_011523106.1:c.355A>G	XP_011521408.1:p.Ile119Val
NM_001363837.1:c.355A>G	NP_001350766.1:p.Ile119Val
XM_005255983.4:c.355A>G	XP_005256040.1:p.Ile119Val
XM_005255984.4:c.334A>G	XP_005256041.1:p.Ile112Val
XM_017023283.1:c.-1151A>G	XP_016878772.1:n.-1151A>G
XM_017023284.1:c.-1151A>G	XP_016878773.1:n.-1151A>G
XR_001751913.1:n.370A>G
NM_000293.3:c.355A>G MANE Select	NP_000284.1:p.Ile119Val
NM_001031835.3:c.334A>G	NP_001027005.1:p.Ile112Val