Canonical Allele Identifier: CA10362113

Gene: PHKA2

Linked Data

• dbSNP Id: rs757321326
• ExAC: X:18969206 A / G
• gnomAD v2: X-18969206-A-G
• gnomAD v3: X-18951088-A-G
• gnomAD v4: X-18951088-A-G
• MyVariant Identifiers: chrX:g.18969206A>G (hg19) ; chrX:g.18951088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951088A>G , CM000685.2:g.18951088A>G	GRCh38
NC_000023.10:g.18969206A>G , CM000685.1:g.18969206A>G	GRCh37
NC_000023.9:g.18879127A>G	NCBI36
NG_016622.1:g.38275T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.454+16T>C MANE Select	ENSP00000369274.4:n.454+16T>C
ENST00000379942.4:c.454+16T>C	ENSP00000369274.4:n.454+16T>C
NM_000292.2:c.454+16T>C	NP_000283.1:n.454+16T>C
XM_005274548.3:c.454+16T>C	XP_005274605.1:n.454+16T>C
XM_005274550.3:c.454+16T>C	XP_005274607.1:n.454+16T>C
XM_006724496.2:c.454+16T>C	XP_006724559.1:n.454+16T>C
XM_006724498.2:c.-93+1406T>C	XP_006724561.1:n.-93+1406T>C
XM_011545537.1:c.454+16T>C	XP_011543839.1:n.454+16T>C
XR_950461.1:n.638+16T>C
XM_005274548.5:c.454+16T>C	XP_005274605.1:n.454+16T>C
XM_005274550.5:c.454+16T>C	XP_005274607.1:n.454+16T>C
XM_006724496.4:c.454+16T>C	XP_006724559.1:n.454+16T>C
XM_006724498.4:c.-93+1406T>C	XP_006724561.1:n.-93+1406T>C
XM_011545537.3:c.454+16T>C	XP_011543839.1:n.454+16T>C
XM_017029580.2:c.-388+16T>C	XP_016885069.1:n.-388+16T>C
XR_001755697.2:n.624+16T>C
XR_001755698.2:n.624+16T>C
XR_002958777.1:n.624+16T>C
XR_950461.3:n.624+16T>C
NM_000292.3:c.454+16T>C MANE Select	NP_000283.1:n.454+16T>C