Canonical Allele Identifier: CA412375162

Gene: PHKA2

Linked Data

• gnomAD v4: X-18951167-C-A
• MyVariant Identifiers: chrX:g.18969285C>A (hg19) ; chrX:g.18951167C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951167C>A , CM000685.2:g.18951167C>A	GRCh38
NC_000023.10:g.18969285C>A , CM000685.1:g.18969285C>A	GRCh37
NC_000023.9:g.18879206C>A	NCBI36
NG_016622.1:g.38196G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.391G>T MANE Select	ENSP00000369274.4:p.Gly131Cys
ENST00000379942.4:c.391G>T	ENSP00000369274.4:p.Gly131Cys
NM_000292.2:c.391G>T	NP_000283.1:p.Gly131Cys
XM_005274548.3:c.391G>T	XP_005274605.1:p.Gly131Cys
XM_005274550.3:c.391G>T	XP_005274607.1:p.Gly131Cys
XM_006724496.2:c.391G>T	XP_006724559.1:p.Gly131Cys
XM_006724498.2:c.-93+1327G>T	XP_006724561.1:n.-93+1327G>T
XM_011545537.1:c.391G>T	XP_011543839.1:p.Gly131Cys
XR_950461.1:n.575G>T
XM_005274548.5:c.391G>T	XP_005274605.1:p.Gly131Cys
XM_005274550.5:c.391G>T	XP_005274607.1:p.Gly131Cys
XM_006724496.4:c.391G>T	XP_006724559.1:p.Gly131Cys
XM_006724498.4:c.-93+1327G>T	XP_006724561.1:n.-93+1327G>T
XM_011545537.3:c.391G>T	XP_011543839.1:p.Gly131Cys
XM_017029580.2:c.-451G>T	XP_016885069.1:n.-451G>T
XR_001755697.2:n.561G>T
XR_001755698.2:n.561G>T
XR_002958777.1:n.561G>T
XR_950461.3:n.561G>T
NM_000292.3:c.391G>T MANE Select	NP_000283.1:p.Gly131Cys