Canonical Allele Identifier: CA331072338
Gene: PHKA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2881961
ClinVar RCV Id: RCV003623677
dbSNP Id: rs782168291
gnomAD v4: X-72667381-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72667381G>C , CM000685.2:g.72667381G>C GRCh38
NC_000023.10:g.71887231G>C , CM000685.1:g.71887231G>C GRCh37
NC_000023.9:g.71803956G>C NCBI36
NG_016599.1:g.51799C>G
NG_016599.2:g.51801C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373542.9:c.711C>G MANE Select ENSP00000362643.4:p.His237Gln
ENST00000339490.7:c.711C>G ENSP00000342469.3:p.His237Gln
ENST00000373539.3:c.711C>G ENSP00000362640.3:p.His237Gln
ENST00000373542.8:c.711C>G ENSP00000362643.4:p.His237Gln
ENST00000373545.7:c.711C>G ENSP00000362646.3:p.His237Gln
ENST00000541944.5:c.711C>G ENSP00000441251.1:p.His237Gln
NM_001122670.1:c.711C>G NP_001116142.1:p.His237Gln
NM_001172436.1:c.711C>G NP_001165907.1:p.His237Gln
NM_002637.3:c.711C>G NP_002628.2:p.His237Gln
XM_006724661.2:c.711C>G XP_006724724.1:p.His237Gln
XR_001755696.1:n.854C>G
NM_002637.4:c.711C>G MANE Select NP_002628.2:p.His237Gln
NM_001122670.2:c.711C>G NP_001116142.1:p.His237Gln
NM_001172436.2:c.711C>G NP_001165907.1:p.His237Gln