Canonical Allele Identifier: CA120816
Gene: PHKA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9927
ClinVar RCV Id: RCV000010605
dbSNP Id: rs137852548
gnomAD v3: X-72667425-C-T
gnomAD v4: X-72667425-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72667425C>T , CM000685.2:g.72667425C>T GRCh38
NC_000023.10:g.71887275C>T , CM000685.1:g.71887275C>T GRCh37
NC_000023.9:g.71804000C>T NCBI36
NG_016599.1:g.51755G>A
NG_016599.2:g.51757G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373542.9:c.667G>A MANE Select ENSP00000362643.4:p.Gly223Arg
ENST00000339490.7:c.667G>A ENSP00000342469.3:p.Gly223Arg
ENST00000373539.3:c.667G>A ENSP00000362640.3:p.Gly223Arg
ENST00000373542.8:c.667G>A ENSP00000362643.4:p.Gly223Arg
ENST00000373545.7:c.667G>A ENSP00000362646.3:p.Gly223Arg
ENST00000541944.5:c.667G>A ENSP00000441251.1:p.Gly223Arg
NM_001122670.1:c.667G>A NP_001116142.1:p.Gly223Arg
NM_001172436.1:c.667G>A NP_001165907.1:p.Gly223Arg
NM_002637.3:c.667G>A NP_002628.2:p.Gly223Arg
XM_006724661.2:c.667G>A XP_006724724.1:p.Gly223Arg
XR_001755696.1:n.810G>A
NM_002637.4:c.667G>A MANE Select NP_002628.2:p.Gly223Arg
NM_001122670.2:c.667G>A NP_001116142.1:p.Gly223Arg
NM_001172436.2:c.667G>A NP_001165907.1:p.Gly223Arg