Canonical Allele Identifier: CA121116
Gene: PHKA2 HGNC NCBI

Linked Data

dbSNP Id: rs137852295
MyVariant Identifiers: chrX:g.18963249T>C (hg19) chrX:g.18945131T>C (hg38)
PubMed: PMID:9600238
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18945131T>C , CM000685.2:g.18945131T>C GRCh38
NC_000023.10:g.18963249T>C , CM000685.1:g.18963249T>C GRCh37
NC_000023.9:g.18873170T>C NCBI36
NG_016622.1:g.44232A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379942.5:c.565A>G MANE Select ENSP00000369274.4:p.Lys189Glu
ENST00000379942.4:c.565A>G ENSP00000369274.4:p.Lys189Glu
NM_000292.2:c.565A>G NP_000283.1:p.Lys189Glu
XM_005274548.3:c.565A>G XP_005274605.1:p.Lys189Glu
XM_005274550.3:c.565A>G XP_005274607.1:p.Lys189Glu
XM_006724496.2:c.565A>G XP_006724559.1:p.Lys189Glu
XM_006724498.2:c.19A>G XP_006724561.1:p.Lys7Glu
XM_011545537.1:c.565A>G XP_011543839.1:p.Lys189Glu
XR_950461.1:n.749A>G
XM_005274548.5:c.565A>G XP_005274605.1:p.Lys189Glu
XM_005274550.5:c.565A>G XP_005274607.1:p.Lys189Glu
XM_006724496.4:c.565A>G XP_006724559.1:p.Lys189Glu
XM_006724498.4:c.19A>G XP_006724561.1:p.Lys7Glu
XM_011545537.3:c.565A>G XP_011543839.1:p.Lys189Glu
XM_017029580.2:c.-277A>G XP_016885069.1:n.-277A>G
XR_001755697.2:n.735A>G
XR_001755698.2:n.735A>G
XR_002958777.1:n.735A>G
XR_950461.3:n.735A>G
NM_000292.3:c.565A>G MANE Select NP_000283.1:p.Lys189Glu
Search 100 bp 5'
Search 100 bp 3'