Canonical Allele Identifier: CA10362127

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951204G>A , CM000685.2:g.18951204G>A	GRCh38
NC_000023.10:g.18969322G>A , CM000685.1:g.18969322G>A	GRCh37
NC_000023.9:g.18879243G>A	NCBI36
NG_016622.1:g.38159C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.354C>T MANE Select	NP_000283.1:p.Thr118=
ENST00000379942.5:c.354C>T MANE Select	ENSP00000369274.4:p.Thr118=
NM_000292.2:c.354C>T	NP_000283.1:p.Thr118=
ENST00000379942.4:c.354C>T	ENSP00000369274.4:p.Thr118=
XM_005274548.3:c.354C>T	XP_005274605.1:p.Thr118=
XM_005274548.5:c.354C>T	XP_005274605.1:p.Thr118=
XM_005274550.3:c.354C>T	XP_005274607.1:p.Thr118=
XM_005274550.5:c.354C>T	XP_005274607.1:p.Thr118=
XM_006724496.2:c.354C>T	XP_006724559.1:p.Thr118=
XM_006724496.4:c.354C>T	XP_006724559.1:p.Thr118=
XM_006724498.2:c.-93+1290C>T	XP_006724561.1:n.-93+1290C>T
XM_006724498.4:c.-93+1290C>T	XP_006724561.1:n.-93+1290C>T
XM_011545537.1:c.354C>T	XP_011543839.1:p.Thr118=
XM_011545537.3:c.354C>T	XP_011543839.1:p.Thr118=
XR_001755697.2:n.524C>T
XR_001755698.2:n.524C>T
XR_002958777.1:n.524C>T
XR_950461.1:n.538C>T
XR_950461.3:n.524C>T