Canonical Allele Identifier: CA327028922

Gene: PHKA2

Linked Data

• dbSNP Id: rs137852287
• gnomAD v2: X-18915417-G-A
• gnomAD v3: X-18897299-G-A
• gnomAD v4: X-18897299-G-A
• MyVariant Identifiers: chrX:g.18915417G>A (hg19) ; chrX:g.18897299G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18897299G>A , CM000685.2:g.18897299G>A	GRCh38
NC_000023.10:g.18915417G>A , CM000685.1:g.18915417G>A	GRCh37
NC_000023.9:g.18825338G>A	NCBI36
NG_016622.1:g.92064C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.3146C>T MANE Select	ENSP00000369274.4:p.Ser1049Leu
ENST00000379942.4:c.3146C>T	ENSP00000369274.4:p.Ser1049Leu
ENST00000469485.5:n.871C>T
ENST00000469645.5:n.546C>T
ENST00000473739.5:n.238C>T
NM_000292.2:c.3146C>T	NP_000283.1:p.Ser1049Leu
XM_005274548.3:c.3092C>T	XP_005274605.1:p.Ser1031Leu
XM_005274550.3:c.3062C>T	XP_005274607.1:p.Ser1021Leu
XM_006724496.2:c.3170C>T	XP_006724559.1:p.Ser1057Leu
XM_006724498.2:c.2624C>T	XP_006724561.1:p.Ser875Leu
XM_011545537.1:c.3071C>T	XP_011543839.1:p.Ser1024Leu
XM_011545538.1:c.2153C>T	XP_011543840.1:p.Ser718Leu
XR_950461.1:n.4679C>T
XM_005274548.5:c.3092C>T	XP_005274605.1:p.Ser1031Leu
XM_005274550.5:c.3062C>T	XP_005274607.1:p.Ser1021Leu
XM_006724496.4:c.3170C>T	XP_006724559.1:p.Ser1057Leu
XM_006724498.4:c.2624C>T	XP_006724561.1:p.Ser875Leu
XM_011545537.3:c.3071C>T	XP_011543839.1:p.Ser1024Leu
XM_011545538.3:c.2153C>T	XP_011543840.1:p.Ser718Leu
XM_017029580.2:c.2264C>T	XP_016885069.1:p.Ser755Leu
XR_001755698.2:n.5274C>T
XR_002958777.1:n.3351C>T
XR_950461.3:n.4665C>T
NM_000292.3:c.3146C>T MANE Select	NP_000283.1:p.Ser1049Leu