Canonical Allele Identifier: CA10362120

Gene: PHKA2

Linked Data

• dbSNP Id: rs377351016
• ExAC: X:18969283 G / A
• gnomAD v2: X-18969283-G-A
• gnomAD v3: X-18951165-G-A
• gnomAD v4: X-18951165-G-A
• MyVariant Identifiers: chrX:g.18969283G>A (hg19) ; chrX:g.18951165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951165G>A , CM000685.2:g.18951165G>A	GRCh38
NC_000023.10:g.18969283G>A , CM000685.1:g.18969283G>A	GRCh37
NC_000023.9:g.18879204G>A	NCBI36
NG_016622.1:g.38198C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.393C>T MANE Select	ENSP00000369274.4:p.Gly131=
ENST00000379942.4:c.393C>T	ENSP00000369274.4:p.Gly131=
NM_000292.2:c.393C>T	NP_000283.1:p.Gly131=
XM_005274548.3:c.393C>T	XP_005274605.1:p.Gly131=
XM_005274550.3:c.393C>T	XP_005274607.1:p.Gly131=
XM_006724496.2:c.393C>T	XP_006724559.1:p.Gly131=
XM_006724498.2:c.-93+1329C>T	XP_006724561.1:n.-93+1329C>T
XM_011545537.1:c.393C>T	XP_011543839.1:p.Gly131=
XR_950461.1:n.577C>T
XM_005274548.5:c.393C>T	XP_005274605.1:p.Gly131=
XM_005274550.5:c.393C>T	XP_005274607.1:p.Gly131=
XM_006724496.4:c.393C>T	XP_006724559.1:p.Gly131=
XM_006724498.4:c.-93+1329C>T	XP_006724561.1:n.-93+1329C>T
XM_011545537.3:c.393C>T	XP_011543839.1:p.Gly131=
XM_017029580.2:c.-449C>T	XP_016885069.1:n.-449C>T
XR_001755697.2:n.563C>T
XR_001755698.2:n.563C>T
XR_002958777.1:n.563C>T
XR_950461.3:n.563C>T
NM_000292.3:c.393C>T MANE Select	NP_000283.1:p.Gly131=