Canonical Allele Identifier: CA413594519

Gene: PHKA1

Linked Data

• ClinVar Variation Id: 1714810
• ClinVar RCV Id: RCV002299167
• MyVariant Identifiers: chrX:g.71887278C>A (hg19) ; chrX:g.72667428C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667428C>A , CM000685.2:g.72667428C>A	GRCh38
NC_000023.10:g.71887278C>A , CM000685.1:g.71887278C>A	GRCh37
NC_000023.9:g.71804003C>A	NCBI36
NG_016599.1:g.51752G>T
NG_016599.2:g.51754G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373542.9:c.664G>T MANE Select	ENSP00000362643.4:p.Gly222Cys
ENST00000339490.7:c.664G>T	ENSP00000342469.3:p.Gly222Cys
ENST00000373539.3:c.664G>T	ENSP00000362640.3:p.Gly222Cys
ENST00000373542.8:c.664G>T	ENSP00000362643.4:p.Gly222Cys
ENST00000373545.7:c.664G>T	ENSP00000362646.3:p.Gly222Cys
ENST00000541944.5:c.664G>T	ENSP00000441251.1:p.Gly222Cys
NM_001122670.1:c.664G>T	NP_001116142.1:p.Gly222Cys
NM_001172436.1:c.664G>T	NP_001165907.1:p.Gly222Cys
NM_002637.3:c.664G>T	NP_002628.2:p.Gly222Cys
XM_006724661.2:c.664G>T	XP_006724724.1:p.Gly222Cys
XR_001755696.1:n.807G>T
NM_002637.4:c.664G>T MANE Select	NP_002628.2:p.Gly222Cys
NM_001122670.2:c.664G>T	NP_001116142.1:p.Gly222Cys
NM_001172436.2:c.664G>T	NP_001165907.1:p.Gly222Cys