Canonical Allele Identifier: CA204657

Gene: PHKA2

Linked Data

• ClinVar Variation Id: 208676
• ClinVar RCV Id: RCV000190690 ; RCV000694745 ; RCV003328098
• dbSNP Id: rs797044877
• gnomAD v4: X-18940029-C-T
• MyVariant Identifiers: chrX:g.18958147C>T (hg19) ; chrX:g.18940029C>T (hg38)
• PubMed: PMID:2303074 ; PMID:10330341 ; PMID:12872839 ; PMID:17689125 ; PMID:18950708 ; PMID:21857251 ; PMID:24055370 ; PMID:25266922 ; PMID:26157701

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18940029C>T , CM000685.2:g.18940029C>T	GRCh38
NC_000023.10:g.18958147C>T , CM000685.1:g.18958147C>T	GRCh37
NC_000023.9:g.18868068C>T	NCBI36
NG_016622.1:g.49334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.884G>A MANE Select	ENSP00000369274.4:p.Arg295His
ENST00000379942.4:c.884G>A	ENSP00000369274.4:p.Arg295His
NM_000292.2:c.884G>A	NP_000283.1:p.Arg295His
XM_005274548.3:c.884G>A	XP_005274605.1:p.Arg295His
XM_005274550.3:c.884G>A	XP_005274607.1:p.Arg295His
XM_006724496.2:c.884G>A	XP_006724559.1:p.Arg295His
XM_006724498.2:c.338G>A	XP_006724561.1:p.Arg113His
XM_011545537.1:c.785G>A	XP_011543839.1:p.Arg262His
XR_950461.1:n.1068G>A
XM_005274548.5:c.884G>A	XP_005274605.1:p.Arg295His
XM_005274550.5:c.884G>A	XP_005274607.1:p.Arg295His
XM_006724496.4:c.884G>A	XP_006724559.1:p.Arg295His
XM_006724498.4:c.338G>A	XP_006724561.1:p.Arg113His
XM_011545537.3:c.785G>A	XP_011543839.1:p.Arg262His
XM_011545538.3:c.-185G>A	XP_011543840.1:n.-185G>A
XM_017029580.2:c.43G>A	XP_016885069.1:p.Ala15Thr
XR_001755697.2:n.1054G>A
XR_001755698.2:n.1054G>A
XR_002958777.1:n.1054G>A
XR_950461.3:n.1054G>A
NM_000292.3:c.884G>A MANE Select	NP_000283.1:p.Arg295His