Canonical Allele Identifier: CA412374461

Gene: PHKA2 PHKA2-AS1

Linked Data

• dbSNP Id: rs1601685491
• gnomAD v4: X-18893596-G-T
• MyVariant Identifiers: chrX:g.18911714G>T (hg19) ; chrX:g.18893596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893596G>T , CM000685.2:g.18893596G>T	GRCh38
NC_000023.10:g.18911714G>T , CM000685.1:g.18911714G>T	GRCh37
NC_000023.9:g.18821635G>T	NCBI36
NG_016622.1:g.95767C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3597C>A (PHKA2) MANE Select	ENSP00000369274.4:p.Phe1199Leu
ENST00000379942.4:c.3597C>A (PHKA2)	ENSP00000369274.4:p.Phe1199Leu
ENST00000469485.5:n.1322C>A (PHKA2)
ENST00000473597.1:n.366C>A (PHKA2)
ENST00000481718.1:n.2491C>A (PHKA2)
NM_000292.2:c.3597C>A (PHKA2)	NP_000283.1:p.Phe1199Leu
NR_029379.1:n.467+258G>T (PHKA2-AS1)
XM_005274548.3:c.3543C>A (PHKA2)	XP_005274605.1:p.Phe1181Leu
XM_005274550.3:c.3513C>A (PHKA2)	XP_005274607.1:p.Phe1171Leu
XM_006724496.2:c.3621C>A (PHKA2)	XP_006724559.1:p.Phe1207Leu
XM_006724498.2:c.3075C>A (PHKA2)	XP_006724561.1:p.Phe1025Leu
XM_011545537.1:c.3522C>A (PHKA2)	XP_011543839.1:p.Phe1174Leu
XM_011545538.1:c.2604C>A (PHKA2)	XP_011543840.1:p.Phe868Leu
XM_005274548.5:c.3543C>A (PHKA2)	XP_005274605.1:p.Phe1181Leu
XM_005274550.5:c.3513C>A (PHKA2)	XP_005274607.1:p.Phe1171Leu
XM_006724496.4:c.3621C>A (PHKA2)	XP_006724559.1:p.Phe1207Leu
XM_006724498.4:c.3075C>A (PHKA2)	XP_006724561.1:p.Phe1025Leu
XM_011545537.3:c.3522C>A (PHKA2)	XP_011543839.1:p.Phe1174Leu
XM_011545538.3:c.2604C>A (PHKA2)	XP_011543840.1:p.Phe868Leu
XM_017029580.2:c.2715C>A (PHKA2)	XP_016885069.1:p.Phe905Leu
XR_001755698.2:n.5725C>A (PHKA2)
NM_000292.3:c.3597C>A (PHKA2) MANE Select	NP_000283.1:p.Phe1199Leu