Canonical Allele Identifier: CA10361736

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18918741T>C , CM000685.2:g.18918741T>C	GRCh38
NC_000023.10:g.18936859T>C , CM000685.1:g.18936859T>C	GRCh37
NC_000023.9:g.18846780T>C	NCBI36
NG_016622.1:g.70622A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.2077A>G MANE Select	ENSP00000369274.4:p.Ile693Val
ENST00000379942.4:c.2077A>G	ENSP00000369274.4:p.Ile693Val
NM_000292.2:c.2077A>G	NP_000283.1:p.Ile693Val
XM_005274548.3:c.2077A>G	XP_005274605.1:p.Ile693Val
XM_005274550.3:c.2077A>G	XP_005274607.1:p.Ile693Val
XM_006724496.2:c.2077A>G	XP_006724559.1:p.Ile693Val
XM_006724498.2:c.1531A>G	XP_006724561.1:p.Ile511Val
XM_011545537.1:c.1978A>G	XP_011543839.1:p.Ile660Val
XM_011545538.1:c.1060A>G	XP_011543840.1:p.Ile354Val
XR_950461.1:n.2261A>G
XM_005274548.5:c.2077A>G	XP_005274605.1:p.Ile693Val
XM_005274550.5:c.2077A>G	XP_005274607.1:p.Ile693Val
XM_006724496.4:c.2077A>G	XP_006724559.1:p.Ile693Val
XM_006724498.4:c.1531A>G	XP_006724561.1:p.Ile511Val
XM_011545537.3:c.1978A>G	XP_011543839.1:p.Ile660Val
XM_011545538.3:c.1060A>G	XP_011543840.1:p.Ile354Val
XM_017029580.2:c.1171A>G	XP_016885069.1:p.Ile391Val
XR_001755697.2:n.2247A>G
XR_001755698.2:n.2247A>G
XR_002958777.1:n.2247A>G
XR_950461.3:n.2247A>G
NM_000292.3:c.2077A>G MANE Select	NP_000283.1:p.Ile693Val