Canonical Allele Identifier: CA412375783

Gene: PHKA2

Linked Data

• gnomAD v4: X-18951237-G-C
• MyVariant Identifiers: chrX:g.18969355G>C (hg19) ; chrX:g.18951237G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951237G>C , CM000685.2:g.18951237G>C	GRCh38
NC_000023.10:g.18969355G>C , CM000685.1:g.18969355G>C	GRCh37
NC_000023.9:g.18879276G>C	NCBI36
NG_016622.1:g.38126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.321C>G MANE Select	ENSP00000369274.4:p.Ser107Arg
ENST00000379942.4:c.321C>G	ENSP00000369274.4:p.Ser107Arg
NM_000292.2:c.321C>G	NP_000283.1:p.Ser107Arg
XM_005274548.3:c.321C>G	XP_005274605.1:p.Ser107Arg
XM_005274550.3:c.321C>G	XP_005274607.1:p.Ser107Arg
XM_006724496.2:c.321C>G	XP_006724559.1:p.Ser107Arg
XM_006724498.2:c.-93+1257C>G	XP_006724561.1:n.-93+1257C>G
XM_011545537.1:c.321C>G	XP_011543839.1:p.Ser107Arg
XR_950461.1:n.505C>G
XM_005274548.5:c.321C>G	XP_005274605.1:p.Ser107Arg
XM_005274550.5:c.321C>G	XP_005274607.1:p.Ser107Arg
XM_006724496.4:c.321C>G	XP_006724559.1:p.Ser107Arg
XM_006724498.4:c.-93+1257C>G	XP_006724561.1:n.-93+1257C>G
XM_011545537.3:c.321C>G	XP_011543839.1:p.Ser107Arg
XR_001755697.2:n.491C>G
XR_001755698.2:n.491C>G
XR_002958777.1:n.491C>G
XR_950461.3:n.491C>G
NM_000292.3:c.321C>G MANE Select	NP_000283.1:p.Ser107Arg