Canonical Allele Identifier: CA396101113

Gene: PHKB

Linked Data

• MyVariant Identifiers: chr16:g.47730349G>A (hg19) ; chr16:g.47696438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696438G>A , CM000678.2:g.47696438G>A	GRCh38
NC_000016.9:g.47730349G>A , CM000678.1:g.47730349G>A	GRCh37
NC_000016.8:g.46287850G>A	NCBI36
NG_016598.1:g.240140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1527G>A	ENSP00000512887.1:n.*1527G>A
ENST00000699276.1:c.*581G>A	ENSP00000514257.1:n.*581G>A
ENST00000323584.10:c.2953G>A MANE Select	ENSP00000313504.5:p.Asp985Asn
ENST00000299167.12:c.2953G>A	ENSP00000299167.8:p.Asp985Asn
ENST00000323584.9:c.2953G>A	ENSP00000313504.5:p.Asp985Asn
ENST00000566044.5:c.2932G>A	ENSP00000456729.1:p.Asp978Asn
ENST00000566319.2:n.1769G>A
NM_000293.2:c.2953G>A	NP_000284.1:p.Asp985Asn
NM_001031835.2:c.2932G>A	NP_001027005.1:p.Asp978Asn
XM_005255983.3:c.2953G>A	XP_005256040.1:p.Asp985Asn
XM_005255984.3:c.2932G>A	XP_005256041.1:p.Asp978Asn
XM_011523107.1:c.1531G>A	XP_011521409.1:p.Asp511Asn
NM_001363837.1:c.2953G>A	NP_001350766.1:p.Asp985Asn
XM_005255983.4:c.2953G>A	XP_005256040.1:p.Asp985Asn
XM_005255984.4:c.2932G>A	XP_005256041.1:p.Asp978Asn
XM_017023282.1:c.1840G>A	XP_016878771.1:p.Asp614Asn
XM_017023283.1:c.1531G>A	XP_016878772.1:p.Asp511Asn
XM_017023284.1:c.1531G>A	XP_016878773.1:p.Asp511Asn
XR_001751913.1:n.2877G>A
NM_000293.3:c.2953G>A MANE Select	NP_000284.1:p.Asp985Asn
NM_001031835.3:c.2932G>A	NP_001027005.1:p.Asp978Asn