Canonical Allele Identifier: CA495357003

Gene: PHKB

Linked Data

• dbSNP Id: rs1420042263
• gnomAD v4: 16-47503063-C-G
• MyVariant Identifiers: chr16:g.47536974C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47503063C>G , CM000678.2:g.47503063C>G	GRCh38
NC_000016.9:g.47536974C>G , CM000678.1:g.47536974C>G	GRCh37
NC_000016.8:g.46094475C>G	NCBI36
NG_016598.1:g.46765C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.357C>G	ENSP00000512887.1:p.Leu119=
ENST00000699276.1:c.357C>G	ENSP00000514257.1:p.Leu119=
ENST00000323584.10:c.378C>G MANE Select	ENSP00000313504.5:p.Leu126=
ENST00000299167.12:c.378C>G	ENSP00000299167.8:p.Leu126=
ENST00000323584.9:c.378C>G	ENSP00000313504.5:p.Leu126=
ENST00000563376.5:c.357C>G	ENSP00000457905.1:p.Leu119=
ENST00000565424.2:n.96+41637C>G
ENST00000566037.6:c.357C>G	ENSP00000455664.2:p.Leu119=
ENST00000566044.5:c.357C>G	ENSP00000456729.1:p.Leu119=
ENST00000567402.5:n.393C>G
ENST00000570047.2:c.212C>G
NM_000293.2:c.378C>G	NP_000284.1:p.Leu126=
NM_001031835.2:c.357C>G	NP_001027005.1:p.Leu119=
XM_005255983.3:c.378C>G	XP_005256040.1:p.Leu126=
XM_005255984.3:c.357C>G	XP_005256041.1:p.Leu119=
XM_011523106.1:c.378C>G	XP_011521408.1:p.Leu126=
NM_001363837.1:c.378C>G	NP_001350766.1:p.Leu126=
XM_005255983.4:c.378C>G	XP_005256040.1:p.Leu126=
XM_005255984.4:c.357C>G	XP_005256041.1:p.Leu119=
XM_017023283.1:c.-1128C>G	XP_016878772.1:n.-1128C>G
XM_017023284.1:c.-1128C>G	XP_016878773.1:n.-1128C>G
XR_001751913.1:n.393C>G
NM_000293.3:c.378C>G MANE Select	NP_000284.1:p.Leu126=
NM_001031835.3:c.357C>G	NP_001027005.1:p.Leu119=