Canonical Allele Identifier: CA2220378518

Gene: PHKB

Linked Data

• dbSNP Id: rs1970353556
• gnomAD v4: 16-47503211-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47503211G>C , CM000678.2:g.47503211G>C	GRCh38
NC_000016.9:g.47537122G>C , CM000678.1:g.47537122G>C	GRCh37
NC_000016.8:g.46094623G>C	NCBI36
NG_016598.1:g.46913G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.384+121G>C	ENSP00000512887.1:n.384+121G>C
ENST00000699276.1:c.384+121G>C	ENSP00000514257.1:n.384+121G>C
ENST00000323584.10:c.405+121G>C MANE Select	ENSP00000313504.5:n.405+121G>C
ENST00000299167.12:c.405+121G>C	ENSP00000299167.8:n.405+121G>C
ENST00000323584.9:c.405+121G>C	ENSP00000313504.5:n.405+121G>C
ENST00000563376.5:c.384+121G>C	ENSP00000457905.1:n.384+121G>C
ENST00000565424.2:n.96+41785G>C
ENST00000566037.6:c.384+121G>C	ENSP00000455664.2:n.384+121G>C
ENST00000566044.5:c.384+121G>C	ENSP00000456729.1:n.384+121G>C
ENST00000567402.5:n.420+121G>C
ENST00000570047.2:c.239+121G>C
NM_000293.2:c.405+121G>C	NP_000284.1:n.405+121G>C
NM_001031835.2:c.384+121G>C	NP_001027005.1:n.384+121G>C
XM_005255983.3:c.405+121G>C	XP_005256040.1:n.405+121G>C
XM_005255984.3:c.384+121G>C	XP_005256041.1:n.384+121G>C
XM_011523106.1:c.405+121G>C	XP_011521408.1:n.405+121G>C
NM_001363837.1:c.405+121G>C	NP_001350766.1:n.405+121G>C
XM_005255983.4:c.405+121G>C	XP_005256040.1:n.405+121G>C
XM_005255984.4:c.384+121G>C	XP_005256041.1:n.384+121G>C
XM_017023283.1:c.-1101+121G>C	XP_016878772.1:n.-1101+121G>C
XM_017023284.1:c.-1101+121G>C	XP_016878773.1:n.-1101+121G>C
XR_001751913.1:n.420+121G>C
NM_000293.3:c.405+121G>C MANE Select	NP_000284.1:n.405+121G>C
NM_001031835.3:c.384+121G>C	NP_001027005.1:n.384+121G>C