Canonical Allele Identifier: CA396101055

Gene: PHKB

Linked Data

• MyVariant Identifiers: chr16:g.47730323A>C (hg19) ; chr16:g.47696412A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696412A>C , CM000678.2:g.47696412A>C	GRCh38
NC_000016.9:g.47730323A>C , CM000678.1:g.47730323A>C	GRCh37
NC_000016.8:g.46287824A>C	NCBI36
NG_016598.1:g.240114A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1501A>C	ENSP00000512887.1:n.*1501A>C
ENST00000699276.1:c.*555A>C	ENSP00000514257.1:n.*555A>C
ENST00000323584.10:c.2927A>C MANE Select	ENSP00000313504.5:p.Glu976Ala
ENST00000299167.12:c.2927A>C	ENSP00000299167.8:p.Glu976Ala
ENST00000323584.9:c.2927A>C	ENSP00000313504.5:p.Glu976Ala
ENST00000566044.5:c.2906A>C	ENSP00000456729.1:p.Glu969Ala
ENST00000566319.2:n.1743A>C
NM_000293.2:c.2927A>C	NP_000284.1:p.Glu976Ala
NM_001031835.2:c.2906A>C	NP_001027005.1:p.Glu969Ala
XM_005255983.3:c.2927A>C	XP_005256040.1:p.Glu976Ala
XM_005255984.3:c.2906A>C	XP_005256041.1:p.Glu969Ala
XM_011523107.1:c.1505A>C	XP_011521409.1:p.Glu502Ala
NM_001363837.1:c.2927A>C	NP_001350766.1:p.Glu976Ala
XM_005255983.4:c.2927A>C	XP_005256040.1:p.Glu976Ala
XM_005255984.4:c.2906A>C	XP_005256041.1:p.Glu969Ala
XM_017023282.1:c.1814A>C	XP_016878771.1:p.Glu605Ala
XM_017023283.1:c.1505A>C	XP_016878772.1:p.Glu502Ala
XM_017023284.1:c.1505A>C	XP_016878773.1:p.Glu502Ala
XR_001751913.1:n.2851A>C
NM_000293.3:c.2927A>C MANE Select	NP_000284.1:p.Glu976Ala
NM_001031835.3:c.2906A>C	NP_001027005.1:p.Glu969Ala