Canonical Allele Identifier: CA412374616

Gene: PHKA2 PHKA2-AS1

Linked Data

• gnomAD v4: X-18893633-G-A
• MyVariant Identifiers: chrX:g.18911751G>A (hg19) ; chrX:g.18893633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893633G>A , CM000685.2:g.18893633G>A	GRCh38
NC_000023.10:g.18911751G>A , CM000685.1:g.18911751G>A	GRCh37
NC_000023.9:g.18821672G>A	NCBI36
NG_016622.1:g.95730C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3560C>T (PHKA2) MANE Select	ENSP00000369274.4:p.Thr1187Ile
ENST00000379942.4:c.3560C>T (PHKA2)	ENSP00000369274.4:p.Thr1187Ile
ENST00000469485.5:n.1285C>T (PHKA2)
ENST00000473597.1:n.329C>T (PHKA2)
ENST00000481718.1:n.2454C>T (PHKA2)
NM_000292.2:c.3560C>T (PHKA2)	NP_000283.1:p.Thr1187Ile
NR_029379.1:n.467+295G>A (PHKA2-AS1)
XM_005274548.3:c.3506C>T (PHKA2)	XP_005274605.1:p.Thr1169Ile
XM_005274550.3:c.3476C>T (PHKA2)	XP_005274607.1:p.Thr1159Ile
XM_006724496.2:c.3584C>T (PHKA2)	XP_006724559.1:p.Thr1195Ile
XM_006724498.2:c.3038C>T (PHKA2)	XP_006724561.1:p.Thr1013Ile
XM_011545537.1:c.3485C>T (PHKA2)	XP_011543839.1:p.Thr1162Ile
XM_011545538.1:c.2567C>T (PHKA2)	XP_011543840.1:p.Thr856Ile
XM_005274548.5:c.3506C>T (PHKA2)	XP_005274605.1:p.Thr1169Ile
XM_005274550.5:c.3476C>T (PHKA2)	XP_005274607.1:p.Thr1159Ile
XM_006724496.4:c.3584C>T (PHKA2)	XP_006724559.1:p.Thr1195Ile
XM_006724498.4:c.3038C>T (PHKA2)	XP_006724561.1:p.Thr1013Ile
XM_011545537.3:c.3485C>T (PHKA2)	XP_011543839.1:p.Thr1162Ile
XM_011545538.3:c.2567C>T (PHKA2)	XP_011543840.1:p.Thr856Ile
XM_017029580.2:c.2678C>T (PHKA2)	XP_016885069.1:p.Thr893Ile
XR_001755698.2:n.5688C>T (PHKA2)
NM_000292.3:c.3560C>T (PHKA2) MANE Select	NP_000283.1:p.Thr1187Ile