Canonical Allele Identifier: CA515472756
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.18911747C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893629C>A , CM000685.2:g.18893629C>A GRCh38
NC_000023.10:g.18911747C>A , CM000685.1:g.18911747C>A GRCh37
NC_000023.9:g.18821668C>A NCBI36
NG_016622.1:g.95734G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3564G>T (PHKA2) MANE Select ENSP00000369274.4:p.Leu1188=
ENST00000379942.4:c.3564G>T (PHKA2) ENSP00000369274.4:p.Leu1188=
ENST00000469485.5:n.1289G>T (PHKA2)
ENST00000473597.1:n.333G>T (PHKA2)
ENST00000481718.1:n.2458G>T (PHKA2)
NM_000292.2:c.3564G>T (PHKA2) NP_000283.1:p.Leu1188=
NR_029379.1:n.467+291C>A (PHKA2-AS1)
XM_005274548.3:c.3510G>T (PHKA2) XP_005274605.1:p.Leu1170=
XM_005274550.3:c.3480G>T (PHKA2) XP_005274607.1:p.Leu1160=
XM_006724496.2:c.3588G>T (PHKA2) XP_006724559.1:p.Leu1196=
XM_006724498.2:c.3042G>T (PHKA2) XP_006724561.1:p.Leu1014=
XM_011545537.1:c.3489G>T (PHKA2) XP_011543839.1:p.Leu1163=
XM_011545538.1:c.2571G>T (PHKA2) XP_011543840.1:p.Leu857=
XM_005274548.5:c.3510G>T (PHKA2) XP_005274605.1:p.Leu1170=
XM_005274550.5:c.3480G>T (PHKA2) XP_005274607.1:p.Leu1160=
XM_006724496.4:c.3588G>T (PHKA2) XP_006724559.1:p.Leu1196=
XM_006724498.4:c.3042G>T (PHKA2) XP_006724561.1:p.Leu1014=
XM_011545537.3:c.3489G>T (PHKA2) XP_011543839.1:p.Leu1163=
XM_011545538.3:c.2571G>T (PHKA2) XP_011543840.1:p.Leu857=
XM_017029580.2:c.2682G>T (PHKA2) XP_016885069.1:p.Leu894=
XR_001755698.2:n.5692G>T (PHKA2)
NM_000292.3:c.3564G>T (PHKA2) MANE Select NP_000283.1:p.Leu1188=