Canonical Allele Identifier: CA413594556

Gene: PHKA1

Linked Data

• ClinVar Variation Id: 2878790
• ClinVar RCV Id: RCV003623639
• dbSNP Id: rs1556306926
• gnomAD v2: X-71887295-T-C
• gnomAD v3: X-72667445-T-C
• gnomAD v4: X-72667445-T-C
• MyVariant Identifiers: chrX:g.71887295T>C (hg19) ; chrX:g.72667445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667445T>C , CM000685.2:g.72667445T>C	GRCh38
NC_000023.10:g.71887295T>C , CM000685.1:g.71887295T>C	GRCh37
NC_000023.9:g.71804020T>C	NCBI36
NG_016599.1:g.51735A>G
NG_016599.2:g.51737A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.647A>G MANE Select	ENSP00000362643.4:p.Asp216Gly
ENST00000339490.7:c.647A>G	ENSP00000342469.3:p.Asp216Gly
ENST00000373539.3:c.647A>G	ENSP00000362640.3:p.Asp216Gly
ENST00000373542.8:c.647A>G	ENSP00000362643.4:p.Asp216Gly
ENST00000373545.7:c.647A>G	ENSP00000362646.3:p.Asp216Gly
ENST00000541944.5:c.647A>G	ENSP00000441251.1:p.Asp216Gly
NM_001122670.1:c.647A>G	NP_001116142.1:p.Asp216Gly
NM_001172436.1:c.647A>G	NP_001165907.1:p.Asp216Gly
NM_002637.3:c.647A>G	NP_002628.2:p.Asp216Gly
XM_006724661.2:c.647A>G	XP_006724724.1:p.Asp216Gly
XR_001755696.1:n.790A>G
NM_002637.4:c.647A>G MANE Select	NP_002628.2:p.Asp216Gly
NM_001122670.2:c.647A>G	NP_001116142.1:p.Asp216Gly
NM_001172436.2:c.647A>G	NP_001165907.1:p.Asp216Gly