Canonical Allele Identifier: CA412375224

Gene: PHKA2

Linked Data

• MyVariant Identifiers: chrX:g.18969291G>C (hg19) ; chrX:g.18951173G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951173G>C , CM000685.2:g.18951173G>C	GRCh38
NC_000023.10:g.18969291G>C , CM000685.1:g.18969291G>C	GRCh37
NC_000023.9:g.18879212G>C	NCBI36
NG_016622.1:g.38190C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.385C>G MANE Select	ENSP00000369274.4:p.Gln129Glu
ENST00000379942.4:c.385C>G	ENSP00000369274.4:p.Gln129Glu
NM_000292.2:c.385C>G	NP_000283.1:p.Gln129Glu
XM_005274548.3:c.385C>G	XP_005274605.1:p.Gln129Glu
XM_005274550.3:c.385C>G	XP_005274607.1:p.Gln129Glu
XM_006724496.2:c.385C>G	XP_006724559.1:p.Gln129Glu
XM_006724498.2:c.-93+1321C>G	XP_006724561.1:n.-93+1321C>G
XM_011545537.1:c.385C>G	XP_011543839.1:p.Gln129Glu
XR_950461.1:n.569C>G
XM_005274548.5:c.385C>G	XP_005274605.1:p.Gln129Glu
XM_005274550.5:c.385C>G	XP_005274607.1:p.Gln129Glu
XM_006724496.4:c.385C>G	XP_006724559.1:p.Gln129Glu
XM_006724498.4:c.-93+1321C>G	XP_006724561.1:n.-93+1321C>G
XM_011545537.3:c.385C>G	XP_011543839.1:p.Gln129Glu
XM_017029580.2:c.-457C>G	XP_016885069.1:n.-457C>G
XR_001755697.2:n.555C>G
XR_001755698.2:n.555C>G
XR_002958777.1:n.555C>G
XR_950461.3:n.555C>G
NM_000292.3:c.385C>G MANE Select	NP_000283.1:p.Gln129Glu