Canonical Allele Identifier: CA10361262

Gene: PHKA2 PHKA2-AS1

Linked Data

• dbSNP Id: rs775556050
• ExAC: X:18911751 G / T
• gnomAD v2: X-18911751-G-T
• gnomAD v3: X-18893633-G-T
• gnomAD v4: X-18893633-G-T
• MyVariant Identifiers: chrX:g.18911751G>T (hg19) ; chrX:g.18893633G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3560C>A (PHKA2) MANE Select	ENSP00000369274.4:p.Thr1187Asn
ENST00000379942.4:c.3560C>A (PHKA2)	ENSP00000369274.4:p.Thr1187Asn
ENST00000469485.5:n.1285C>A (PHKA2)
ENST00000473597.1:n.329C>A (PHKA2)
ENST00000481718.1:n.2454C>A (PHKA2)
NM_000292.2:c.3560C>A (PHKA2)	NP_000283.1:p.Thr1187Asn
NR_029379.1:n.467+295G>T (PHKA2-AS1)
XM_005274548.3:c.3506C>A (PHKA2)	XP_005274605.1:p.Thr1169Asn
XM_005274550.3:c.3476C>A (PHKA2)	XP_005274607.1:p.Thr1159Asn
XM_006724496.2:c.3584C>A (PHKA2)	XP_006724559.1:p.Thr1195Asn
XM_006724498.2:c.3038C>A (PHKA2)	XP_006724561.1:p.Thr1013Asn
XM_011545537.1:c.3485C>A (PHKA2)	XP_011543839.1:p.Thr1162Asn
XM_011545538.1:c.2567C>A (PHKA2)	XP_011543840.1:p.Thr856Asn
XM_005274548.5:c.3506C>A (PHKA2)	XP_005274605.1:p.Thr1169Asn
XM_005274550.5:c.3476C>A (PHKA2)	XP_005274607.1:p.Thr1159Asn
XM_006724496.4:c.3584C>A (PHKA2)	XP_006724559.1:p.Thr1195Asn
XM_006724498.4:c.3038C>A (PHKA2)	XP_006724561.1:p.Thr1013Asn
XM_011545537.3:c.3485C>A (PHKA2)	XP_011543839.1:p.Thr1162Asn
XM_011545538.3:c.2567C>A (PHKA2)	XP_011543840.1:p.Thr856Asn
XM_017029580.2:c.2678C>A (PHKA2)	XP_016885069.1:p.Thr893Asn
XR_001755698.2:n.5688C>A (PHKA2)
NM_000292.3:c.3560C>A (PHKA2) MANE Select	NP_000283.1:p.Thr1187Asn