Canonical Allele Identifier: CA515472709

Gene: PHKA2 PHKA2-AS1

Linked Data

• gnomAD v4: X-18893611-T-C
• MyVariant Identifiers: chrX:g.18911729T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893611T>C , CM000685.2:g.18893611T>C	GRCh38
NC_000023.10:g.18911729T>C , CM000685.1:g.18911729T>C	GRCh37
NC_000023.9:g.18821650T>C	NCBI36
NG_016622.1:g.95752A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3582A>G (PHKA2) MANE Select	ENSP00000369274.4:p.Thr1194=
ENST00000379942.4:c.3582A>G (PHKA2)	ENSP00000369274.4:p.Thr1194=
ENST00000469485.5:n.1307A>G (PHKA2)
ENST00000473597.1:n.351A>G (PHKA2)
ENST00000481718.1:n.2476A>G (PHKA2)
NM_000292.2:c.3582A>G (PHKA2)	NP_000283.1:p.Thr1194=
NR_029379.1:n.467+273T>C (PHKA2-AS1)
XM_005274548.3:c.3528A>G (PHKA2)	XP_005274605.1:p.Thr1176=
XM_005274550.3:c.3498A>G (PHKA2)	XP_005274607.1:p.Thr1166=
XM_006724496.2:c.3606A>G (PHKA2)	XP_006724559.1:p.Thr1202=
XM_006724498.2:c.3060A>G (PHKA2)	XP_006724561.1:p.Thr1020=
XM_011545537.1:c.3507A>G (PHKA2)	XP_011543839.1:p.Thr1169=
XM_011545538.1:c.2589A>G (PHKA2)	XP_011543840.1:p.Thr863=
XM_005274548.5:c.3528A>G (PHKA2)	XP_005274605.1:p.Thr1176=
XM_005274550.5:c.3498A>G (PHKA2)	XP_005274607.1:p.Thr1166=
XM_006724496.4:c.3606A>G (PHKA2)	XP_006724559.1:p.Thr1202=
XM_006724498.4:c.3060A>G (PHKA2)	XP_006724561.1:p.Thr1020=
XM_011545537.3:c.3507A>G (PHKA2)	XP_011543839.1:p.Thr1169=
XM_011545538.3:c.2589A>G (PHKA2)	XP_011543840.1:p.Thr863=
XM_017029580.2:c.2700A>G (PHKA2)	XP_016885069.1:p.Thr900=
XR_001755698.2:n.5710A>G (PHKA2)
NM_000292.3:c.3582A>G (PHKA2) MANE Select	NP_000283.1:p.Thr1194=