Canonical Allele Identifier: CA412372721

Gene: PHKA2

Linked Data

• ClinVar Variation Id: 1685402
• ClinVar RCV Id: RCV002249129
• dbSNP Id: rs137852290
• MyVariant Identifiers: chrX:g.18963257C>G (hg19) ; chrX:g.18945139C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18945139C>G , CM000685.2:g.18945139C>G	GRCh38
NC_000023.10:g.18963257C>G , CM000685.1:g.18963257C>G	GRCh37
NC_000023.9:g.18873178C>G	NCBI36
NG_016622.1:g.44224G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.557G>C MANE Select	ENSP00000369274.4:p.Arg186Pro
ENST00000379942.4:c.557G>C	ENSP00000369274.4:p.Arg186Pro
NM_000292.2:c.557G>C	NP_000283.1:p.Arg186Pro
XM_005274548.3:c.557G>C	XP_005274605.1:p.Arg186Pro
XM_005274550.3:c.557G>C	XP_005274607.1:p.Arg186Pro
XM_006724496.2:c.557G>C	XP_006724559.1:p.Arg186Pro
XM_006724498.2:c.11G>C	XP_006724561.1:p.Arg4Pro
XM_011545537.1:c.557G>C	XP_011543839.1:p.Arg186Pro
XR_950461.1:n.741G>C
XM_005274548.5:c.557G>C	XP_005274605.1:p.Arg186Pro
XM_005274550.5:c.557G>C	XP_005274607.1:p.Arg186Pro
XM_006724496.4:c.557G>C	XP_006724559.1:p.Arg186Pro
XM_006724498.4:c.11G>C	XP_006724561.1:p.Arg4Pro
XM_011545537.3:c.557G>C	XP_011543839.1:p.Arg186Pro
XM_017029580.2:c.-285G>C	XP_016885069.1:n.-285G>C
XR_001755697.2:n.727G>C
XR_001755698.2:n.727G>C
XR_002958777.1:n.727G>C
XR_950461.3:n.727G>C
NM_000292.3:c.557G>C MANE Select	NP_000283.1:p.Arg186Pro