Canonical Allele Identifier: CA121110

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18945139C>T , CM000685.2:g.18945139C>T	GRCh38
NC_000023.10:g.18963257C>T , CM000685.1:g.18963257C>T	GRCh37
NC_000023.9:g.18873178C>T	NCBI36
NG_016622.1:g.44224G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.557G>A MANE Select	NP_000283.1:p.Arg186His
ENST00000379942.5:c.557G>A MANE Select	ENSP00000369274.4:p.Arg186His
NM_000292.2:c.557G>A	NP_000283.1:p.Arg186His
ENST00000379942.4:c.557G>A	ENSP00000369274.4:p.Arg186His
XM_005274548.3:c.557G>A	XP_005274605.1:p.Arg186His
XM_005274548.5:c.557G>A	XP_005274605.1:p.Arg186His
XM_005274550.3:c.557G>A	XP_005274607.1:p.Arg186His
XM_005274550.5:c.557G>A	XP_005274607.1:p.Arg186His
XM_006724496.2:c.557G>A	XP_006724559.1:p.Arg186His
XM_006724496.4:c.557G>A	XP_006724559.1:p.Arg186His
XM_006724498.2:c.11G>A	XP_006724561.1:p.Arg4His
XM_006724498.4:c.11G>A	XP_006724561.1:p.Arg4His
XM_011545537.1:c.557G>A	XP_011543839.1:p.Arg186His
XM_011545537.3:c.557G>A	XP_011543839.1:p.Arg186His
XM_017029580.2:c.-285G>A	XP_016885069.1:n.-285G>A
XR_001755697.2:n.727G>A
XR_001755698.2:n.727G>A
XR_002958777.1:n.727G>A
XR_950461.1:n.741G>A
XR_950461.3:n.727G>A