Canonical Allele Identifier: CA10450436

Gene: PHKA1

Linked Data

• ClinVar Variation Id: 387009
• ClinVar RCV Id: RCV000441925
• dbSNP Id: rs782121327
• ExAC: X:71800984 G / A
• gnomAD v2: X-71800984-G-A
• gnomAD v3: X-72581134-G-A
• gnomAD v4: X-72581134-G-A
• MyVariant Identifiers: chrX:g.71800984G>A (hg19) ; chrX:g.72581134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72581134G>A , CM000685.2:g.72581134G>A	GRCh38
NC_000023.10:g.71800984G>A , CM000685.1:g.71800984G>A	GRCh37
NC_000023.9:g.71717709G>A	NCBI36
NG_016599.1:g.138046C>T
NG_016599.2:g.138048C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373542.9:c.3540C>T MANE Select	ENSP00000362643.4:p.Pro1180=
ENST00000339490.7:c.3501C>T	ENSP00000342469.3:p.Pro1167=
ENST00000373539.3:c.3591C>T	ENSP00000362640.3:p.Pro1197=
ENST00000373542.8:c.3540C>T	ENSP00000362643.4:p.Pro1180=
ENST00000373545.7:c.3414C>T	ENSP00000362646.3:p.Pro1138=
ENST00000541944.5:c.3324C>T	ENSP00000441251.1:p.Pro1108=
NM_001122670.1:c.3501C>T	NP_001116142.1:p.Pro1167=
NM_001172436.1:c.3324C>T	NP_001165907.1:p.Pro1108=
NM_002637.3:c.3540C>T	NP_002628.2:p.Pro1180=
XM_006724661.2:c.3363C>T	XP_006724724.1:p.Pro1121=
XR_001755696.1:n.4470C>T
NM_002637.4:c.3540C>T MANE Select	NP_002628.2:p.Pro1180=
NM_001122670.2:c.3501C>T	NP_001116142.1:p.Pro1167=
NM_001172436.2:c.3324C>T	NP_001165907.1:p.Pro1108=