Canonical Allele Identifier: CA327026955

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18895187T>C , CM000685.2:g.18895187T>C	GRCh38
NC_000023.10:g.18913305T>C , CM000685.1:g.18913305T>C	GRCh37
NC_000023.9:g.18823226T>C	NCBI36
NG_016622.1:g.94176A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.3287A>G MANE Select	NP_000283.1:p.His1096Arg
ENST00000379942.5:c.3287A>G MANE Select	ENSP00000369274.4:p.His1096Arg
NM_000292.2:c.3287A>G	NP_000283.1:p.His1096Arg
ENST00000379942.4:c.3287A>G	ENSP00000369274.4:p.His1096Arg
ENST00000469485.5:n.1012A>G
ENST00000469645.5:n.687A>G
ENST00000473597.1:n.56A>G
ENST00000473739.5:n.379A>G
ENST00000481718.1:n.1448A>G
XM_005274548.3:c.3233A>G	XP_005274605.1:p.His1078Arg
XM_005274548.5:c.3233A>G	XP_005274605.1:p.His1078Arg
XM_005274550.3:c.3203A>G	XP_005274607.1:p.His1068Arg
XM_005274550.5:c.3203A>G	XP_005274607.1:p.His1068Arg
XM_006724496.2:c.3311A>G	XP_006724559.1:p.His1104Arg
XM_006724496.4:c.3311A>G	XP_006724559.1:p.His1104Arg
XM_006724498.2:c.2765A>G	XP_006724561.1:p.His922Arg
XM_006724498.4:c.2765A>G	XP_006724561.1:p.His922Arg
XM_011545537.1:c.3212A>G	XP_011543839.1:p.His1071Arg
XM_011545537.3:c.3212A>G	XP_011543839.1:p.His1071Arg
XM_011545538.1:c.2294A>G	XP_011543840.1:p.His765Arg
XM_011545538.3:c.2294A>G	XP_011543840.1:p.His765Arg
XM_017029580.2:c.2405A>G	XP_016885069.1:p.His802Arg
XR_001755698.2:n.5415A>G
XR_002958777.1:n.3492A>G