Canonical Allele Identifier: CA396101048

Gene: PHKB

Linked Data

• gnomAD v4: 16-47696409-A-G
• MyVariant Identifiers: chr16:g.47730320A>G (hg19) ; chr16:g.47696409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696409A>G , CM000678.2:g.47696409A>G	GRCh38
NC_000016.9:g.47730320A>G , CM000678.1:g.47730320A>G	GRCh37
NC_000016.8:g.46287821A>G	NCBI36
NG_016598.1:g.240111A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*1498A>G	ENSP00000512887.1:n.*1498A>G
ENST00000699276.1:c.*552A>G	ENSP00000514257.1:n.*552A>G
ENST00000323584.10:c.2924A>G MANE Select	ENSP00000313504.5:p.Tyr975Cys
ENST00000299167.12:c.2924A>G	ENSP00000299167.8:p.Tyr975Cys
ENST00000323584.9:c.2924A>G	ENSP00000313504.5:p.Tyr975Cys
ENST00000566044.5:c.2903A>G	ENSP00000456729.1:p.Tyr968Cys
ENST00000566319.2:n.1740A>G
NM_000293.2:c.2924A>G	NP_000284.1:p.Tyr975Cys
NM_001031835.2:c.2903A>G	NP_001027005.1:p.Tyr968Cys
XM_005255983.3:c.2924A>G	XP_005256040.1:p.Tyr975Cys
XM_005255984.3:c.2903A>G	XP_005256041.1:p.Tyr968Cys
XM_011523107.1:c.1502A>G	XP_011521409.1:p.Tyr501Cys
NM_001363837.1:c.2924A>G	NP_001350766.1:p.Tyr975Cys
XM_005255983.4:c.2924A>G	XP_005256040.1:p.Tyr975Cys
XM_005255984.4:c.2903A>G	XP_005256041.1:p.Tyr968Cys
XM_017023282.1:c.1811A>G	XP_016878771.1:p.Tyr604Cys
XM_017023283.1:c.1502A>G	XP_016878772.1:p.Tyr501Cys
XM_017023284.1:c.1502A>G	XP_016878773.1:p.Tyr501Cys
XR_001751913.1:n.2848A>G
NM_000293.3:c.2924A>G MANE Select	NP_000284.1:p.Tyr975Cys
NM_001031835.3:c.2903A>G	NP_001027005.1:p.Tyr968Cys