Canonical Allele Identifier: CA10361673
Gene: PHKA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18908848C>T , CM000685.2:g.18908848C>T GRCh38
NC_000023.10:g.18926966C>T , CM000685.1:g.18926966C>T GRCh37
NC_000023.9:g.18836887C>T NCBI36
NG_016622.1:g.80515G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.2313G>A MANE Select ENSP00000369274.4:p.Ser771=
ENST00000379942.4:c.2313G>A ENSP00000369274.4:p.Ser771=
NM_000292.2:c.2313G>A NP_000283.1:p.Ser771=
XM_005274548.3:c.2313G>A XP_005274605.1:p.Ser771=
XM_005274550.3:c.2313G>A XP_005274607.1:p.Ser771=
XM_006724496.2:c.2313G>A XP_006724559.1:p.Ser771=
XM_006724498.2:c.1767G>A XP_006724561.1:p.Ser589=
XM_011545537.1:c.2214G>A XP_011543839.1:p.Ser738=
XM_011545538.1:c.1296G>A XP_011543840.1:p.Ser432=
XR_950461.1:n.2497G>A
XM_005274548.5:c.2313G>A XP_005274605.1:p.Ser771=
XM_005274550.5:c.2313G>A XP_005274607.1:p.Ser771=
XM_006724496.4:c.2313G>A XP_006724559.1:p.Ser771=
XM_006724498.4:c.1767G>A XP_006724561.1:p.Ser589=
XM_011545537.3:c.2214G>A XP_011543839.1:p.Ser738=
XM_011545538.3:c.1296G>A XP_011543840.1:p.Ser432=
XM_017029580.2:c.1407G>A XP_016885069.1:p.Ser469=
XR_001755697.2:n.2483G>A
XR_001755698.2:n.2483G>A
XR_002958777.1:n.2483G>A
XR_950461.3:n.2483G>A
NM_000292.3:c.2313G>A MANE Select NP_000283.1:p.Ser771=