Canonical Allele Identifier: CA640512307

Gene: PHKA2

Linked Data

• dbSNP Id: rs1183250428
• gnomAD v2: X-18969189-C-T
• gnomAD v4: X-18951071-C-T
• MyVariant Identifiers: chrX:g.18969189C>T (hg19) ; chrX:g.18951071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951071C>T , CM000685.2:g.18951071C>T	GRCh38
NC_000023.10:g.18969189C>T , CM000685.1:g.18969189C>T	GRCh37
NC_000023.9:g.18879110C>T	NCBI36
NG_016622.1:g.38292G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.454+33G>A MANE Select	ENSP00000369274.4:n.454+33G>A
ENST00000379942.4:c.454+33G>A	ENSP00000369274.4:n.454+33G>A
NM_000292.2:c.454+33G>A	NP_000283.1:n.454+33G>A
XM_005274548.3:c.454+33G>A	XP_005274605.1:n.454+33G>A
XM_005274550.3:c.454+33G>A	XP_005274607.1:n.454+33G>A
XM_006724496.2:c.454+33G>A	XP_006724559.1:n.454+33G>A
XM_006724498.2:c.-93+1423G>A	XP_006724561.1:n.-93+1423G>A
XM_011545537.1:c.454+33G>A	XP_011543839.1:n.454+33G>A
XR_950461.1:n.638+33G>A
XM_005274548.5:c.454+33G>A	XP_005274605.1:n.454+33G>A
XM_005274550.5:c.454+33G>A	XP_005274607.1:n.454+33G>A
XM_006724496.4:c.454+33G>A	XP_006724559.1:n.454+33G>A
XM_006724498.4:c.-93+1423G>A	XP_006724561.1:n.-93+1423G>A
XM_011545537.3:c.454+33G>A	XP_011543839.1:n.454+33G>A
XM_017029580.2:c.-388+33G>A	XP_016885069.1:n.-388+33G>A
XR_001755697.2:n.624+33G>A
XR_001755698.2:n.624+33G>A
XR_002958777.1:n.624+33G>A
XR_950461.3:n.624+33G>A
NM_000292.3:c.454+33G>A MANE Select	NP_000283.1:n.454+33G>A