Canonical Allele Identifier: CA413594568

Gene: PHKA1

Linked Data

• MyVariant Identifiers: chrX:g.71887301T>A (hg19) ; chrX:g.72667451T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667451T>A , CM000685.2:g.72667451T>A	GRCh38
NC_000023.10:g.71887301T>A , CM000685.1:g.71887301T>A	GRCh37
NC_000023.9:g.71804026T>A	NCBI36
NG_016599.1:g.51729A>T
NG_016599.2:g.51731A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.641A>T MANE Select	ENSP00000362643.4:p.Glu214Val
ENST00000339490.7:c.641A>T	ENSP00000342469.3:p.Glu214Val
ENST00000373539.3:c.641A>T	ENSP00000362640.3:p.Glu214Val
ENST00000373542.8:c.641A>T	ENSP00000362643.4:p.Glu214Val
ENST00000373545.7:c.641A>T	ENSP00000362646.3:p.Glu214Val
ENST00000541944.5:c.641A>T	ENSP00000441251.1:p.Glu214Val
NM_001122670.1:c.641A>T	NP_001116142.1:p.Glu214Val
NM_001172436.1:c.641A>T	NP_001165907.1:p.Glu214Val
NM_002637.3:c.641A>T	NP_002628.2:p.Glu214Val
XM_006724661.2:c.641A>T	XP_006724724.1:p.Glu214Val
XR_001755696.1:n.784A>T
NM_002637.4:c.641A>T MANE Select	NP_002628.2:p.Glu214Val
NM_001122670.2:c.641A>T	NP_001116142.1:p.Glu214Val
NM_001172436.2:c.641A>T	NP_001165907.1:p.Glu214Val