Canonical Allele Identifier: CA413594600

Gene: PHKA1

Linked Data

• dbSNP Id: rs1271854811
• gnomAD v3: X-72667464-C-T
• gnomAD v4: X-72667464-C-T
• COSMIC: COSM3563303 ; COSM3563304
• MyVariant Identifiers: chrX:g.71887314C>T (hg19) ; chrX:g.72667464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667464C>T , CM000685.2:g.72667464C>T	GRCh38
NC_000023.10:g.71887314C>T , CM000685.1:g.71887314C>T	GRCh37
NC_000023.9:g.71804039C>T	NCBI36
NG_016599.1:g.51716G>A
NG_016599.2:g.51718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.628G>A MANE Select	ENSP00000362643.4:p.Glu210Lys
ENST00000339490.7:c.628G>A	ENSP00000342469.3:p.Glu210Lys
ENST00000373539.3:c.628G>A	ENSP00000362640.3:p.Glu210Lys
ENST00000373542.8:c.628G>A	ENSP00000362643.4:p.Glu210Lys
ENST00000373545.7:c.628G>A	ENSP00000362646.3:p.Glu210Lys
ENST00000541944.5:c.628G>A	ENSP00000441251.1:p.Glu210Lys
NM_001122670.1:c.628G>A	NP_001116142.1:p.Glu210Lys
NM_001172436.1:c.628G>A	NP_001165907.1:p.Glu210Lys
NM_002637.3:c.628G>A	NP_002628.2:p.Glu210Lys
XM_006724661.2:c.628G>A	XP_006724724.1:p.Glu210Lys
XR_001755696.1:n.771G>A
NM_002637.4:c.628G>A MANE Select	NP_002628.2:p.Glu210Lys
NM_001122670.2:c.628G>A	NP_001116142.1:p.Glu210Lys
NM_001172436.2:c.628G>A	NP_001165907.1:p.Glu210Lys