Canonical Allele Identifier: CA10361803
Community Standard Title: NM_000292.3(PHKA2):c.1715-7T>C
Gene: PHKA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18924141A>G , CM000685.2:g.18924141A>G GRCh38
NC_000023.10:g.18942259A>G , CM000685.1:g.18942259A>G GRCh37
NC_000023.9:g.18852180A>G NCBI36
NG_016622.1:g.65222T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000292.3:c.1715-7T>C MANE Select NP_000283.1:n.1715-7T>C
ENST00000379942.5:c.1715-7T>C MANE Select ENSP00000369274.4:n.1715-7T>C
NM_000292.2:c.1715-7T>C NP_000283.1:n.1715-7T>C
ENST00000379942.4:c.1715-7T>C ENSP00000369274.4:n.1715-7T>C
XM_005274548.3:c.1715-7T>C XP_005274605.1:n.1715-7T>C
XM_005274548.5:c.1715-7T>C XP_005274605.1:n.1715-7T>C
XM_005274550.3:c.1715-7T>C XP_005274607.1:n.1715-7T>C
XM_005274550.5:c.1715-7T>C XP_005274607.1:n.1715-7T>C
XM_006724496.2:c.1715-7T>C XP_006724559.1:n.1715-7T>C
XM_006724496.4:c.1715-7T>C XP_006724559.1:n.1715-7T>C
XM_006724498.2:c.1169-7T>C XP_006724561.1:n.1169-7T>C
XM_006724498.4:c.1169-7T>C XP_006724561.1:n.1169-7T>C
XM_011545537.1:c.1616-7T>C XP_011543839.1:n.1616-7T>C
XM_011545537.3:c.1616-7T>C XP_011543839.1:n.1616-7T>C
XM_011545538.1:c.698-7T>C XP_011543840.1:n.698-7T>C
XM_011545538.3:c.698-7T>C XP_011543840.1:n.698-7T>C
XM_017029580.2:c.809-7T>C XP_016885069.1:n.809-7T>C
XR_001755697.2:n.1885-7T>C
XR_001755698.2:n.1885-7T>C
XR_002958777.1:n.1885-7T>C
XR_950461.1:n.1899-7T>C
XR_950461.3:n.1885-7T>C