Canonical Allele Identifier: CA516753826
Gene: PHKA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.71887276A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72667426A>C , CM000685.2:g.72667426A>C GRCh38
NC_000023.10:g.71887276A>C , CM000685.1:g.71887276A>C GRCh37
NC_000023.9:g.71804001A>C NCBI36
NG_016599.1:g.51754T>G
NG_016599.2:g.51756T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000373542.9:c.666T>G MANE Select ENSP00000362643.4:p.Gly222=
ENST00000339490.7:c.666T>G ENSP00000342469.3:p.Gly222=
ENST00000373539.3:c.666T>G ENSP00000362640.3:p.Gly222=
ENST00000373542.8:c.666T>G ENSP00000362643.4:p.Gly222=
ENST00000373545.7:c.666T>G ENSP00000362646.3:p.Gly222=
ENST00000541944.5:c.666T>G ENSP00000441251.1:p.Gly222=
NM_001122670.1:c.666T>G NP_001116142.1:p.Gly222=
NM_001172436.1:c.666T>G NP_001165907.1:p.Gly222=
NM_002637.3:c.666T>G NP_002628.2:p.Gly222=
XM_006724661.2:c.666T>G XP_006724724.1:p.Gly222=
XR_001755696.1:n.809T>G
NM_002637.4:c.666T>G MANE Select NP_002628.2:p.Gly222=
NM_001122670.2:c.666T>G NP_001116142.1:p.Gly222=
NM_001172436.2:c.666T>G NP_001165907.1:p.Gly222=