Canonical Allele Identifier: CA396101063

Gene: PHKB

Linked Data

• gnomAD v4: 16-47696415-T-A
• MyVariant Identifiers: chr16:g.47730326T>A (hg19) ; chr16:g.47696415T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696415T>A , CM000678.2:g.47696415T>A	GRCh38
NC_000016.9:g.47730326T>A , CM000678.1:g.47730326T>A	GRCh37
NC_000016.8:g.46287827T>A	NCBI36
NG_016598.1:g.240117T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*1504T>A	ENSP00000512887.1:n.*1504T>A
ENST00000699276.1:c.*558T>A	ENSP00000514257.1:n.*558T>A
ENST00000323584.10:c.2930T>A MANE Select	ENSP00000313504.5:p.Met977Lys
ENST00000299167.12:c.2930T>A	ENSP00000299167.8:p.Met977Lys
ENST00000323584.9:c.2930T>A	ENSP00000313504.5:p.Met977Lys
ENST00000566044.5:c.2909T>A	ENSP00000456729.1:p.Met970Lys
ENST00000566319.2:n.1746T>A
NM_000293.2:c.2930T>A	NP_000284.1:p.Met977Lys
NM_001031835.2:c.2909T>A	NP_001027005.1:p.Met970Lys
XM_005255983.3:c.2930T>A	XP_005256040.1:p.Met977Lys
XM_005255984.3:c.2909T>A	XP_005256041.1:p.Met970Lys
XM_011523107.1:c.1508T>A	XP_011521409.1:p.Met503Lys
NM_001363837.1:c.2930T>A	NP_001350766.1:p.Met977Lys
XM_005255983.4:c.2930T>A	XP_005256040.1:p.Met977Lys
XM_005255984.4:c.2909T>A	XP_005256041.1:p.Met970Lys
XM_017023282.1:c.1817T>A	XP_016878771.1:p.Met606Lys
XM_017023283.1:c.1508T>A	XP_016878772.1:p.Met503Lys
XM_017023284.1:c.1508T>A	XP_016878773.1:p.Met503Lys
XR_001751913.1:n.2854T>A
NM_000293.3:c.2930T>A MANE Select	NP_000284.1:p.Met977Lys
NM_001031835.3:c.2909T>A	NP_001027005.1:p.Met970Lys