Canonical Allele Identifier: CA495361380

Gene: PHKB

Linked Data

• gnomAD v4: 16-47696419-T-C
• MyVariant Identifiers: chr16:g.47730330T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696419T>C , CM000678.2:g.47696419T>C	GRCh38
NC_000016.9:g.47730330T>C , CM000678.1:g.47730330T>C	GRCh37
NC_000016.8:g.46287831T>C	NCBI36
NG_016598.1:g.240121T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*1508T>C	ENSP00000512887.1:n.*1508T>C
ENST00000699276.1:c.*562T>C	ENSP00000514257.1:n.*562T>C
ENST00000323584.10:c.2934T>C MANE Select	ENSP00000313504.5:p.Asn978=
ENST00000299167.12:c.2934T>C	ENSP00000299167.8:p.Asn978=
ENST00000323584.9:c.2934T>C	ENSP00000313504.5:p.Asn978=
ENST00000566044.5:c.2913T>C	ENSP00000456729.1:p.Asn971=
ENST00000566319.2:n.1750T>C
NM_000293.2:c.2934T>C	NP_000284.1:p.Asn978=
NM_001031835.2:c.2913T>C	NP_001027005.1:p.Asn971=
XM_005255983.3:c.2934T>C	XP_005256040.1:p.Asn978=
XM_005255984.3:c.2913T>C	XP_005256041.1:p.Asn971=
XM_011523107.1:c.1512T>C	XP_011521409.1:p.Asn504=
NM_001363837.1:c.2934T>C	NP_001350766.1:p.Asn978=
XM_005255983.4:c.2934T>C	XP_005256040.1:p.Asn978=
XM_005255984.4:c.2913T>C	XP_005256041.1:p.Asn971=
XM_017023282.1:c.1821T>C	XP_016878771.1:p.Asn607=
XM_017023283.1:c.1512T>C	XP_016878772.1:p.Asn504=
XM_017023284.1:c.1512T>C	XP_016878773.1:p.Asn504=
XR_001751913.1:n.2858T>C
NM_000293.3:c.2934T>C MANE Select	NP_000284.1:p.Asn978=
NM_001031835.3:c.2913T>C	NP_001027005.1:p.Asn971=