Canonical Allele Identifier: CA10451010

Gene: PHKA1

Linked Data

• dbSNP Id: rs371403408
• ExAC: X:71887216 A / G
• gnomAD v2: X-71887216-A-G
• gnomAD v3: X-72667366-A-G
• gnomAD v4: X-72667366-A-G
• MyVariant Identifiers: chrX:g.71887216A>G (hg19) ; chrX:g.72667366A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667366A>G , CM000685.2:g.72667366A>G	GRCh38
NC_000023.10:g.71887216A>G , CM000685.1:g.71887216A>G	GRCh37
NC_000023.9:g.71803941A>G	NCBI36
NG_016599.1:g.51814T>C
NG_016599.2:g.51816T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373542.9:c.717+9T>C MANE Select	ENSP00000362643.4:n.717+9T>C
ENST00000339490.7:c.717+9T>C	ENSP00000342469.3:n.717+9T>C
ENST00000373539.3:c.717+9T>C	ENSP00000362640.3:n.717+9T>C
ENST00000373542.8:c.717+9T>C	ENSP00000362643.4:n.717+9T>C
ENST00000373545.7:c.717+9T>C	ENSP00000362646.3:n.717+9T>C
ENST00000541944.5:c.717+9T>C	ENSP00000441251.1:n.717+9T>C
NM_001122670.1:c.717+9T>C	NP_001116142.1:n.717+9T>C
NM_001172436.1:c.717+9T>C	NP_001165907.1:n.717+9T>C
NM_002637.3:c.717+9T>C	NP_002628.2:n.717+9T>C
XM_006724661.2:c.717+9T>C	XP_006724724.1:n.717+9T>C
XR_001755696.1:n.860+9T>C
NM_002637.4:c.717+9T>C MANE Select	NP_002628.2:n.717+9T>C
NM_001122670.2:c.717+9T>C	NP_001116142.1:n.717+9T>C
NM_001172436.2:c.717+9T>C	NP_001165907.1:n.717+9T>C