Canonical Allele Identifier: CA412375688
Gene: PHKA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18951227T>G , CM000685.2:g.18951227T>G GRCh38
NC_000023.10:g.18969345T>G , CM000685.1:g.18969345T>G GRCh37
NC_000023.9:g.18879266T>G NCBI36
NG_016622.1:g.38136A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.331A>C MANE Select ENSP00000369274.4:p.Ser111Arg
ENST00000379942.4:c.331A>C ENSP00000369274.4:p.Ser111Arg
NM_000292.2:c.331A>C NP_000283.1:p.Ser111Arg
XM_005274548.3:c.331A>C XP_005274605.1:p.Ser111Arg
XM_005274550.3:c.331A>C XP_005274607.1:p.Ser111Arg
XM_006724496.2:c.331A>C XP_006724559.1:p.Ser111Arg
XM_006724498.2:c.-93+1267A>C XP_006724561.1:n.-93+1267A>C
XM_011545537.1:c.331A>C XP_011543839.1:p.Ser111Arg
XR_950461.1:n.515A>C
XM_005274548.5:c.331A>C XP_005274605.1:p.Ser111Arg
XM_005274550.5:c.331A>C XP_005274607.1:p.Ser111Arg
XM_006724496.4:c.331A>C XP_006724559.1:p.Ser111Arg
XM_006724498.4:c.-93+1267A>C XP_006724561.1:n.-93+1267A>C
XM_011545537.3:c.331A>C XP_011543839.1:p.Ser111Arg
XR_001755697.2:n.501A>C
XR_001755698.2:n.501A>C
XR_002958777.1:n.501A>C
XR_950461.3:n.501A>C
NM_000292.3:c.331A>C MANE Select NP_000283.1:p.Ser111Arg