Canonical Allele Identifier: CA412378500

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18897183C>T , CM000685.2:g.18897183C>T	GRCh38
NC_000023.10:g.18915301C>T , CM000685.1:g.18915301C>T	GRCh37
NC_000023.9:g.18825222C>T	NCBI36
NG_016622.1:g.92180G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.3262G>A MANE Select	NP_000283.1:p.Val1088Met
ENST00000379942.5:c.3262G>A MANE Select	ENSP00000369274.4:p.Val1088Met
NM_000292.2:c.3262G>A	NP_000283.1:p.Val1088Met
ENST00000379942.4:c.3262G>A	ENSP00000369274.4:p.Val1088Met
ENST00000469485.5:n.987G>A
ENST00000469645.5:n.662G>A
ENST00000473739.5:n.354G>A
XM_005274548.3:c.3208G>A	XP_005274605.1:p.Val1070Met
XM_005274548.5:c.3208G>A	XP_005274605.1:p.Val1070Met
XM_005274550.3:c.3178G>A	XP_005274607.1:p.Val1060Met
XM_005274550.5:c.3178G>A	XP_005274607.1:p.Val1060Met
XM_006724496.2:c.3286G>A	XP_006724559.1:p.Val1096Met
XM_006724496.4:c.3286G>A	XP_006724559.1:p.Val1096Met
XM_006724498.2:c.2740G>A	XP_006724561.1:p.Val914Met
XM_006724498.4:c.2740G>A	XP_006724561.1:p.Val914Met
XM_011545537.1:c.3187G>A	XP_011543839.1:p.Val1063Met
XM_011545537.3:c.3187G>A	XP_011543839.1:p.Val1063Met
XM_011545538.1:c.2269G>A	XP_011543840.1:p.Val757Met
XM_011545538.3:c.2269G>A	XP_011543840.1:p.Val757Met
XM_017029580.2:c.2380G>A	XP_016885069.1:p.Val794Met
XR_001755698.2:n.5390G>A
XR_002958777.1:n.3467G>A