Canonical Allele Identifier: CA10361572

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18906742G>A , CM000685.2:g.18906742G>A	GRCh38
NC_000023.10:g.18924860G>A , CM000685.1:g.18924860G>A	GRCh37
NC_000023.9:g.18834781G>A	NCBI36
NG_016622.1:g.82621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.2670C>T MANE Select	ENSP00000369274.4:p.Leu890=
ENST00000379942.4:c.2670C>T	ENSP00000369274.4:p.Leu890=
ENST00000469645.5:n.61C>T
NM_000292.2:c.2670C>T	NP_000283.1:p.Leu890=
XM_005274548.3:c.2670C>T	XP_005274605.1:p.Leu890=
XM_005274550.3:c.2670C>T	XP_005274607.1:p.Leu890=
XM_006724496.2:c.2670C>T	XP_006724559.1:p.Leu890=
XM_006724498.2:c.2124C>T	XP_006724561.1:p.Leu708=
XM_011545537.1:c.2571C>T	XP_011543839.1:p.Leu857=
XM_011545538.1:c.1653C>T	XP_011543840.1:p.Leu551=
XR_950461.1:n.2854C>T
XM_005274548.5:c.2670C>T	XP_005274605.1:p.Leu890=
XM_005274550.5:c.2670C>T	XP_005274607.1:p.Leu890=
XM_006724496.4:c.2670C>T	XP_006724559.1:p.Leu890=
XM_006724498.4:c.2124C>T	XP_006724561.1:p.Leu708=
XM_011545537.3:c.2571C>T	XP_011543839.1:p.Leu857=
XM_011545538.3:c.1653C>T	XP_011543840.1:p.Leu551=
XM_017029580.2:c.1764C>T	XP_016885069.1:p.Leu588=
XR_001755697.2:n.2840C>T
XR_001755698.2:n.2840C>T
XR_002958777.1:n.2840C>T
XR_950461.3:n.2840C>T
NM_000292.3:c.2670C>T MANE Select	NP_000283.1:p.Leu890=