Canonical Allele Identifier: CA10451016

Gene: PHKA1

Linked Data

• dbSNP Id: rs782762826
• ExAC: X:71887284 C / A
• gnomAD v2: X-71887284-C-A
• gnomAD v4: X-72667434-C-A
• MyVariant Identifiers: chrX:g.71887284C>A (hg19) ; chrX:g.72667434C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667434C>A , CM000685.2:g.72667434C>A	GRCh38
NC_000023.10:g.71887284C>A , CM000685.1:g.71887284C>A	GRCh37
NC_000023.9:g.71804009C>A	NCBI36
NG_016599.1:g.51746G>T
NG_016599.2:g.51748G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373542.9:c.658G>T MANE Select	ENSP00000362643.4:p.Val220Leu
ENST00000339490.7:c.658G>T	ENSP00000342469.3:p.Val220Leu
ENST00000373539.3:c.658G>T	ENSP00000362640.3:p.Val220Leu
ENST00000373542.8:c.658G>T	ENSP00000362643.4:p.Val220Leu
ENST00000373545.7:c.658G>T	ENSP00000362646.3:p.Val220Leu
ENST00000541944.5:c.658G>T	ENSP00000441251.1:p.Val220Leu
NM_001122670.1:c.658G>T	NP_001116142.1:p.Val220Leu
NM_001172436.1:c.658G>T	NP_001165907.1:p.Val220Leu
NM_002637.3:c.658G>T	NP_002628.2:p.Val220Leu
XM_006724661.2:c.658G>T	XP_006724724.1:p.Val220Leu
XR_001755696.1:n.801G>T
NM_002637.4:c.658G>T MANE Select	NP_002628.2:p.Val220Leu
NM_001122670.2:c.658G>T	NP_001116142.1:p.Val220Leu
NM_001172436.2:c.658G>T	NP_001165907.1:p.Val220Leu