Canonical Allele Identifier: CA412375159

Gene: PHKA2

Linked Data

• dbSNP Id: rs1259088804
• gnomAD v2: X-18969284-C-A
• gnomAD v3: X-18951166-C-A
• gnomAD v4: X-18951166-C-A
• MyVariant Identifiers: chrX:g.18969284C>A (hg19) ; chrX:g.18951166C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951166C>A , CM000685.2:g.18951166C>A	GRCh38
NC_000023.10:g.18969284C>A , CM000685.1:g.18969284C>A	GRCh37
NC_000023.9:g.18879205C>A	NCBI36
NG_016622.1:g.38197G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.392G>T MANE Select	ENSP00000369274.4:p.Gly131Val
ENST00000379942.4:c.392G>T	ENSP00000369274.4:p.Gly131Val
NM_000292.2:c.392G>T	NP_000283.1:p.Gly131Val
XM_005274548.3:c.392G>T	XP_005274605.1:p.Gly131Val
XM_005274550.3:c.392G>T	XP_005274607.1:p.Gly131Val
XM_006724496.2:c.392G>T	XP_006724559.1:p.Gly131Val
XM_006724498.2:c.-93+1328G>T	XP_006724561.1:n.-93+1328G>T
XM_011545537.1:c.392G>T	XP_011543839.1:p.Gly131Val
XR_950461.1:n.576G>T
XM_005274548.5:c.392G>T	XP_005274605.1:p.Gly131Val
XM_005274550.5:c.392G>T	XP_005274607.1:p.Gly131Val
XM_006724496.4:c.392G>T	XP_006724559.1:p.Gly131Val
XM_006724498.4:c.-93+1328G>T	XP_006724561.1:n.-93+1328G>T
XM_011545537.3:c.392G>T	XP_011543839.1:p.Gly131Val
XM_017029580.2:c.-450G>T	XP_016885069.1:n.-450G>T
XR_001755697.2:n.562G>T
XR_001755698.2:n.562G>T
XR_002958777.1:n.562G>T
XR_950461.3:n.562G>T
NM_000292.3:c.392G>T MANE Select	NP_000283.1:p.Gly131Val