Canonical Allele Identifier: CA2418073423
Community Standard Title: NM_000292.3(PHKA2):c.3146C= (p.Ser1049=)
Gene: PHKA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18897299G= , CM000685.2:g.18897299G= GRCh38
NC_000023.10:g.18915417G= , CM000685.1:g.18915417G= GRCh37
NC_000023.9:g.18825338G= NCBI36
NG_016622.1:g.92064C=

Transcript Alleles

HGVS Amino-acid Change
NM_000292.3:c.3146C= MANE Select NP_000283.1:p.Ser1049=
ENST00000379942.5:c.3146C= MANE Select ENSP00000369274.4:p.Ser1049=
NM_000292.2:c.3146C= NP_000283.1:p.Ser1049=
ENST00000379942.4:c.3146C= ENSP00000369274.4:p.Ser1049=
ENST00000469485.5:n.871C=
ENST00000469645.5:n.546C=
ENST00000473739.5:n.238C=
XM_005274548.3:c.3092C= XP_005274605.1:p.Ser1031=
XM_005274548.5:c.3092C= XP_005274605.1:p.Ser1031=
XM_005274550.3:c.3062C= XP_005274607.1:p.Ser1021=
XM_005274550.5:c.3062C= XP_005274607.1:p.Ser1021=
XM_006724496.2:c.3170C= XP_006724559.1:p.Ser1057=
XM_006724496.4:c.3170C= XP_006724559.1:p.Ser1057=
XM_006724498.2:c.2624C= XP_006724561.1:p.Ser875=
XM_006724498.4:c.2624C= XP_006724561.1:p.Ser875=
XM_011545537.1:c.3071C= XP_011543839.1:p.Ser1024=
XM_011545537.3:c.3071C= XP_011543839.1:p.Ser1024=
XM_011545538.1:c.2153C= XP_011543840.1:p.Ser718=
XM_011545538.3:c.2153C= XP_011543840.1:p.Ser718=
XM_017029580.2:c.2264C= XP_016885069.1:p.Ser755=
XR_001755698.2:n.5274C=
XR_002958777.1:n.3351C=
XR_950461.1:n.4679C=
XR_950461.3:n.4665C=