Canonical Allele Identifier: CA396101175

Gene: PHKB

Linked Data

• dbSNP Id: rs1238905095
• gnomAD v2: 16-47730377-A-C
• gnomAD v4: 16-47696466-A-C
• MyVariant Identifiers: chr16:g.47730377A>C (hg19) ; chr16:g.47696466A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696466A>C , CM000678.2:g.47696466A>C	GRCh38
NC_000016.9:g.47730377A>C , CM000678.1:g.47730377A>C	GRCh37
NC_000016.8:g.46287878A>C	NCBI36
NG_016598.1:g.240168A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1555A>C	ENSP00000512887.1:n.*1555A>C
ENST00000699276.1:c.*609A>C	ENSP00000514257.1:n.*609A>C
ENST00000323584.10:c.2981A>C MANE Select	ENSP00000313504.5:p.Gln994Pro
ENST00000299167.12:c.2981A>C	ENSP00000299167.8:p.Gln994Pro
ENST00000323584.9:c.2981A>C	ENSP00000313504.5:p.Gln994Pro
ENST00000566044.5:c.2960A>C	ENSP00000456729.1:p.Gln987Pro
ENST00000566319.2:n.1797A>C
NM_000293.2:c.2981A>C	NP_000284.1:p.Gln994Pro
NM_001031835.2:c.2960A>C	NP_001027005.1:p.Gln987Pro
XM_005255983.3:c.2981A>C	XP_005256040.1:p.Gln994Pro
XM_005255984.3:c.2960A>C	XP_005256041.1:p.Gln987Pro
XM_011523107.1:c.1559A>C	XP_011521409.1:p.Gln520Pro
NM_001363837.1:c.2981A>C	NP_001350766.1:p.Gln994Pro
XM_005255983.4:c.2981A>C	XP_005256040.1:p.Gln994Pro
XM_005255984.4:c.2960A>C	XP_005256041.1:p.Gln987Pro
XM_017023282.1:c.1868A>C	XP_016878771.1:p.Gln623Pro
XM_017023283.1:c.1559A>C	XP_016878772.1:p.Gln520Pro
XM_017023284.1:c.1559A>C	XP_016878773.1:p.Gln520Pro
XR_001751913.1:n.2905A>C
NM_000293.3:c.2981A>C MANE Select	NP_000284.1:p.Gln994Pro
NM_001031835.3:c.2960A>C	NP_001027005.1:p.Gln987Pro