Canonical Allele Identifier: CA515472764

Gene: PHKA2 PHKA2-AS1

Linked Data

• gnomAD v4: X-18893631-G-A
• MyVariant Identifiers: chrX:g.18911749G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893631G>A , CM000685.2:g.18893631G>A	GRCh38
NC_000023.10:g.18911749G>A , CM000685.1:g.18911749G>A	GRCh37
NC_000023.9:g.18821670G>A	NCBI36
NG_016622.1:g.95732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3562C>T (PHKA2) MANE Select	ENSP00000369274.4:p.Leu1188=
ENST00000379942.4:c.3562C>T (PHKA2)	ENSP00000369274.4:p.Leu1188=
ENST00000469485.5:n.1287C>T (PHKA2)
ENST00000473597.1:n.331C>T (PHKA2)
ENST00000481718.1:n.2456C>T (PHKA2)
NM_000292.2:c.3562C>T (PHKA2)	NP_000283.1:p.Leu1188=
NR_029379.1:n.467+293G>A (PHKA2-AS1)
XM_005274548.3:c.3508C>T (PHKA2)	XP_005274605.1:p.Leu1170=
XM_005274550.3:c.3478C>T (PHKA2)	XP_005274607.1:p.Leu1160=
XM_006724496.2:c.3586C>T (PHKA2)	XP_006724559.1:p.Leu1196=
XM_006724498.2:c.3040C>T (PHKA2)	XP_006724561.1:p.Leu1014=
XM_011545537.1:c.3487C>T (PHKA2)	XP_011543839.1:p.Leu1163=
XM_011545538.1:c.2569C>T (PHKA2)	XP_011543840.1:p.Leu857=
XM_005274548.5:c.3508C>T (PHKA2)	XP_005274605.1:p.Leu1170=
XM_005274550.5:c.3478C>T (PHKA2)	XP_005274607.1:p.Leu1160=
XM_006724496.4:c.3586C>T (PHKA2)	XP_006724559.1:p.Leu1196=
XM_006724498.4:c.3040C>T (PHKA2)	XP_006724561.1:p.Leu1014=
XM_011545537.3:c.3487C>T (PHKA2)	XP_011543839.1:p.Leu1163=
XM_011545538.3:c.2569C>T (PHKA2)	XP_011543840.1:p.Leu857=
XM_017029580.2:c.2680C>T (PHKA2)	XP_016885069.1:p.Leu894=
XR_001755698.2:n.5690C>T (PHKA2)
NM_000292.3:c.3562C>T (PHKA2) MANE Select	NP_000283.1:p.Leu1188=