Canonical Allele Identifier: CA10361256

Gene: PHKA2 PHKA2-AS1

Linked Data

• dbSNP Id: rs141588752
• ExAC: X:18911702 G / A
• gnomAD v2: X-18911702-G-A
• gnomAD v3: X-18893584-G-A
• gnomAD v4: X-18893584-G-A
• MyVariant Identifiers: chrX:g.18911702G>A (hg19) ; chrX:g.18893584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893584G>A , CM000685.2:g.18893584G>A	GRCh38
NC_000023.10:g.18911702G>A , CM000685.1:g.18911702G>A	GRCh37
NC_000023.9:g.18821623G>A	NCBI36
NG_016622.1:g.95779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3609C>T (PHKA2) MANE Select	ENSP00000369274.4:p.Ser1203=
ENST00000379942.4:c.3609C>T (PHKA2)	ENSP00000369274.4:p.Ser1203=
ENST00000469485.5:n.1334C>T (PHKA2)
ENST00000473597.1:n.378C>T (PHKA2)
ENST00000481718.1:n.2503C>T (PHKA2)
NM_000292.2:c.3609C>T (PHKA2)	NP_000283.1:p.Ser1203=
NR_029379.1:n.467+246G>A (PHKA2-AS1)
XM_005274548.3:c.3555C>T (PHKA2)	XP_005274605.1:p.Ser1185=
XM_005274550.3:c.3525C>T (PHKA2)	XP_005274607.1:p.Ser1175=
XM_006724496.2:c.3633C>T (PHKA2)	XP_006724559.1:p.Ser1211=
XM_006724498.2:c.3087C>T (PHKA2)	XP_006724561.1:p.Ser1029=
XM_011545537.1:c.3534C>T (PHKA2)	XP_011543839.1:p.Ser1178=
XM_011545538.1:c.2616C>T (PHKA2)	XP_011543840.1:p.Ser872=
XM_005274548.5:c.3555C>T (PHKA2)	XP_005274605.1:p.Ser1185=
XM_005274550.5:c.3525C>T (PHKA2)	XP_005274607.1:p.Ser1175=
XM_006724496.4:c.3633C>T (PHKA2)	XP_006724559.1:p.Ser1211=
XM_006724498.4:c.3087C>T (PHKA2)	XP_006724561.1:p.Ser1029=
XM_011545537.3:c.3534C>T (PHKA2)	XP_011543839.1:p.Ser1178=
XM_011545538.3:c.2616C>T (PHKA2)	XP_011543840.1:p.Ser872=
XM_017029580.2:c.2727C>T (PHKA2)	XP_016885069.1:p.Ser909=
XR_001755698.2:n.5737C>T (PHKA2)
NM_000292.3:c.3609C>T (PHKA2) MANE Select	NP_000283.1:p.Ser1203=