Canonical Allele Identifier: CA412374549

Gene: PHKA2 PHKA2-AS1

Linked Data

• gnomAD v4: X-18893616-C-T
• MyVariant Identifiers: chrX:g.18911734C>T (hg19) ; chrX:g.18893616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893616C>T , CM000685.2:g.18893616C>T	GRCh38
NC_000023.10:g.18911734C>T , CM000685.1:g.18911734C>T	GRCh37
NC_000023.9:g.18821655C>T	NCBI36
NG_016622.1:g.95747G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3577G>A (PHKA2) MANE Select	ENSP00000369274.4:p.Ala1193Thr
ENST00000379942.4:c.3577G>A (PHKA2)	ENSP00000369274.4:p.Ala1193Thr
ENST00000469485.5:n.1302G>A (PHKA2)
ENST00000473597.1:n.346G>A (PHKA2)
ENST00000481718.1:n.2471G>A (PHKA2)
NM_000292.2:c.3577G>A (PHKA2)	NP_000283.1:p.Ala1193Thr
NR_029379.1:n.467+278C>T (PHKA2-AS1)
XM_005274548.3:c.3523G>A (PHKA2)	XP_005274605.1:p.Ala1175Thr
XM_005274550.3:c.3493G>A (PHKA2)	XP_005274607.1:p.Ala1165Thr
XM_006724496.2:c.3601G>A (PHKA2)	XP_006724559.1:p.Ala1201Thr
XM_006724498.2:c.3055G>A (PHKA2)	XP_006724561.1:p.Ala1019Thr
XM_011545537.1:c.3502G>A (PHKA2)	XP_011543839.1:p.Ala1168Thr
XM_011545538.1:c.2584G>A (PHKA2)	XP_011543840.1:p.Ala862Thr
XM_005274548.5:c.3523G>A (PHKA2)	XP_005274605.1:p.Ala1175Thr
XM_005274550.5:c.3493G>A (PHKA2)	XP_005274607.1:p.Ala1165Thr
XM_006724496.4:c.3601G>A (PHKA2)	XP_006724559.1:p.Ala1201Thr
XM_006724498.4:c.3055G>A (PHKA2)	XP_006724561.1:p.Ala1019Thr
XM_011545537.3:c.3502G>A (PHKA2)	XP_011543839.1:p.Ala1168Thr
XM_011545538.3:c.2584G>A (PHKA2)	XP_011543840.1:p.Ala862Thr
XM_017029580.2:c.2695G>A (PHKA2)	XP_016885069.1:p.Ala899Thr
XR_001755698.2:n.5705G>A (PHKA2)
NM_000292.3:c.3577G>A (PHKA2) MANE Select	NP_000283.1:p.Ala1193Thr