Canonical Allele Identifier: CA16608803

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18938617A>G , CM000685.2:g.18938617A>G	GRCh38
NC_000023.10:g.18956735A>G , CM000685.1:g.18956735A>G	GRCh37
NC_000023.9:g.18866656A>G	NCBI36
NG_016622.1:g.50746T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.1041+10T>C MANE Select	NP_000283.1:n.1041+10T>C
ENST00000379942.5:c.1041+10T>C MANE Select	ENSP00000369274.4:n.1041+10T>C
NM_000292.2:c.1041+10T>C	NP_000283.1:n.1041+10T>C
ENST00000379942.4:c.1041+10T>C	ENSP00000369274.4:n.1041+10T>C
XM_005274548.3:c.1041+10T>C	XP_005274605.1:n.1041+10T>C
XM_005274548.5:c.1041+10T>C	XP_005274605.1:n.1041+10T>C
XM_005274550.3:c.1041+10T>C	XP_005274607.1:n.1041+10T>C
XM_005274550.5:c.1041+10T>C	XP_005274607.1:n.1041+10T>C
XM_006724496.2:c.1041+10T>C	XP_006724559.1:n.1041+10T>C
XM_006724496.4:c.1041+10T>C	XP_006724559.1:n.1041+10T>C
XM_006724498.2:c.495+10T>C	XP_006724561.1:n.495+10T>C
XM_006724498.4:c.495+10T>C	XP_006724561.1:n.495+10T>C
XM_011545537.1:c.942+10T>C	XP_011543839.1:n.942+10T>C
XM_011545537.3:c.942+10T>C	XP_011543839.1:n.942+10T>C
XM_011545538.1:c.-28+10T>C	XP_011543840.1:n.-28+10T>C
XM_011545538.3:c.-28+10T>C	XP_011543840.1:n.-28+10T>C
XM_017029580.2:c.135+75T>C	XP_016885069.1:n.135+75T>C
XR_001755697.2:n.1211+10T>C
XR_001755698.2:n.1211+10T>C
XR_002958777.1:n.1211+10T>C
XR_950461.1:n.1225+10T>C
XR_950461.3:n.1211+10T>C