Canonical Allele Identifier: CA2633047708

Gene: PHKB

Linked Data

• gnomAD v4: 16-47650823-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47650823T>G , CM000678.2:g.47650823T>G	GRCh38
NC_000016.9:g.47684734T>G , CM000678.1:g.47684734T>G	GRCh37
NC_000016.8:g.46242235T>G	NCBI36
NG_016598.1:g.194525T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*455-8T>G	ENSP00000512887.1:n.*455-8T>G
ENST00000699276.1:c.1860-8T>G	ENSP00000514257.1:n.1860-8T>G
ENST00000323584.10:c.1881-8T>G MANE Select	ENSP00000313504.5:n.1881-8T>G
ENST00000299167.12:c.1881-8T>G	ENSP00000299167.8:n.1881-8T>G
ENST00000323584.9:c.1881-8T>G	ENSP00000313504.5:n.1881-8T>G
ENST00000566044.5:c.1860-8T>G	ENSP00000456729.1:n.1860-8T>G
NM_000293.2:c.1881-8T>G	NP_000284.1:n.1881-8T>G
NM_001031835.2:c.1860-8T>G	NP_001027005.1:n.1860-8T>G
XM_005255983.3:c.1881-8T>G	XP_005256040.1:n.1881-8T>G
XM_005255984.3:c.1860-8T>G	XP_005256041.1:n.1860-8T>G
XM_011523106.1:c.1881-8T>G	XP_011521408.1:n.1881-8T>G
XM_011523107.1:c.459-8T>G	XP_011521409.1:n.459-8T>G
NM_001363837.1:c.1881-8T>G	NP_001350766.1:n.1881-8T>G
XM_005255983.4:c.1881-8T>G	XP_005256040.1:n.1881-8T>G
XM_005255984.4:c.1860-8T>G	XP_005256041.1:n.1860-8T>G
XM_017023282.1:c.768-8T>G	XP_016878771.1:n.768-8T>G
XM_017023283.1:c.459-8T>G	XP_016878772.1:n.459-8T>G
XM_017023284.1:c.459-8T>G	XP_016878773.1:n.459-8T>G
XR_001751913.1:n.1896-8T>G
NM_000293.3:c.1881-8T>G MANE Select	NP_000284.1:n.1881-8T>G
NM_001031835.3:c.1860-8T>G	NP_001027005.1:n.1860-8T>G