Canonical Allele Identifier: CA412375207

Gene: PHKA2

Linked Data

• MyVariant Identifiers: chrX:g.18969289C>G (hg19) ; chrX:g.18951171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951171C>G , CM000685.2:g.18951171C>G	GRCh38
NC_000023.10:g.18969289C>G , CM000685.1:g.18969289C>G	GRCh37
NC_000023.9:g.18879210C>G	NCBI36
NG_016622.1:g.38192G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.387G>C MANE Select	ENSP00000369274.4:p.Gln129His
ENST00000379942.4:c.387G>C	ENSP00000369274.4:p.Gln129His
NM_000292.2:c.387G>C	NP_000283.1:p.Gln129His
XM_005274548.3:c.387G>C	XP_005274605.1:p.Gln129His
XM_005274550.3:c.387G>C	XP_005274607.1:p.Gln129His
XM_006724496.2:c.387G>C	XP_006724559.1:p.Gln129His
XM_006724498.2:c.-93+1323G>C	XP_006724561.1:n.-93+1323G>C
XM_011545537.1:c.387G>C	XP_011543839.1:p.Gln129His
XR_950461.1:n.571G>C
XM_005274548.5:c.387G>C	XP_005274605.1:p.Gln129His
XM_005274550.5:c.387G>C	XP_005274607.1:p.Gln129His
XM_006724496.4:c.387G>C	XP_006724559.1:p.Gln129His
XM_006724498.4:c.-93+1323G>C	XP_006724561.1:n.-93+1323G>C
XM_011545537.3:c.387G>C	XP_011543839.1:p.Gln129His
XM_017029580.2:c.-455G>C	XP_016885069.1:n.-455G>C
XR_001755697.2:n.557G>C
XR_001755698.2:n.557G>C
XR_002958777.1:n.557G>C
XR_950461.3:n.557G>C
NM_000292.3:c.387G>C MANE Select	NP_000283.1:p.Gln129His