Canonical Allele Identifier: CA10362129

Gene: PHKA2

Linked Data

• dbSNP Id: rs754068712
• ExAC: X:18969358 C / G
• gnomAD v2: X-18969358-C-G
• gnomAD v4: X-18951240-C-G
• MyVariant Identifiers: chrX:g.18969358C>G (hg19) ; chrX:g.18951240C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951240C>G , CM000685.2:g.18951240C>G	GRCh38
NC_000023.10:g.18969358C>G , CM000685.1:g.18969358C>G	GRCh37
NC_000023.9:g.18879279C>G	NCBI36
NG_016622.1:g.38123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.318G>C MANE Select	ENSP00000369274.4:p.Gln106His
ENST00000379942.4:c.318G>C	ENSP00000369274.4:p.Gln106His
NM_000292.2:c.318G>C	NP_000283.1:p.Gln106His
XM_005274548.3:c.318G>C	XP_005274605.1:p.Gln106His
XM_005274550.3:c.318G>C	XP_005274607.1:p.Gln106His
XM_006724496.2:c.318G>C	XP_006724559.1:p.Gln106His
XM_006724498.2:c.-93+1254G>C	XP_006724561.1:n.-93+1254G>C
XM_011545537.1:c.318G>C	XP_011543839.1:p.Gln106His
XR_950461.1:n.502G>C
XM_005274548.5:c.318G>C	XP_005274605.1:p.Gln106His
XM_005274550.5:c.318G>C	XP_005274607.1:p.Gln106His
XM_006724496.4:c.318G>C	XP_006724559.1:p.Gln106His
XM_006724498.4:c.-93+1254G>C	XP_006724561.1:n.-93+1254G>C
XM_011545537.3:c.318G>C	XP_011543839.1:p.Gln106His
XR_001755697.2:n.488G>C
XR_001755698.2:n.488G>C
XR_002958777.1:n.488G>C
XR_950461.3:n.488G>C
NM_000292.3:c.318G>C MANE Select	NP_000283.1:p.Gln106His