Canonical Allele Identifier: CA396099035

Gene: PHKB

Linked Data

• dbSNP Id: rs1461280252
• gnomAD v4: 16-47503049-A-C
• MyVariant Identifiers: chr16:g.47536960A>C (hg19) ; chr16:g.47503049A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47503049A>C , CM000678.2:g.47503049A>C	GRCh38
NC_000016.9:g.47536960A>C , CM000678.1:g.47536960A>C	GRCh37
NC_000016.8:g.46094461A>C	NCBI36
NG_016598.1:g.46751A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.343A>C	ENSP00000512887.1:p.Met115Leu
ENST00000699276.1:c.343A>C	ENSP00000514257.1:p.Met115Leu
ENST00000323584.10:c.364A>C MANE Select	ENSP00000313504.5:p.Met122Leu
ENST00000299167.12:c.364A>C	ENSP00000299167.8:p.Met122Leu
ENST00000323584.9:c.364A>C	ENSP00000313504.5:p.Met122Leu
ENST00000563376.5:c.343A>C	ENSP00000457905.1:p.Met115Leu
ENST00000565424.2:n.96+41623A>C
ENST00000566037.6:c.343A>C	ENSP00000455664.2:p.Met115Leu
ENST00000566044.5:c.343A>C	ENSP00000456729.1:p.Met115Leu
ENST00000567402.5:n.379A>C
ENST00000570047.2:c.198A>C
NM_000293.2:c.364A>C	NP_000284.1:p.Met122Leu
NM_001031835.2:c.343A>C	NP_001027005.1:p.Met115Leu
XM_005255983.3:c.364A>C	XP_005256040.1:p.Met122Leu
XM_005255984.3:c.343A>C	XP_005256041.1:p.Met115Leu
XM_011523106.1:c.364A>C	XP_011521408.1:p.Met122Leu
NM_001363837.1:c.364A>C	NP_001350766.1:p.Met122Leu
XM_005255983.4:c.364A>C	XP_005256040.1:p.Met122Leu
XM_005255984.4:c.343A>C	XP_005256041.1:p.Met115Leu
XM_017023283.1:c.-1142A>C	XP_016878772.1:n.-1142A>C
XM_017023284.1:c.-1142A>C	XP_016878773.1:n.-1142A>C
XR_001751913.1:n.379A>C
NM_000293.3:c.364A>C MANE Select	NP_000284.1:p.Met122Leu
NM_001031835.3:c.343A>C	NP_001027005.1:p.Met115Leu