Canonical Allele Identifier: CA4338026
Community Standard Title: NM_005751.5(AKAP9):c.10793A>G (p.His3598Arg)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099766A>G , CM000669.2:g.92099766A>G GRCh38
NC_000007.13:g.91729080A>G , CM000669.1:g.91729080A>G GRCh37
NC_000007.12:g.91567016A>G NCBI36
NG_011623.1:g.163892A>G , LRG_331:g.163892A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.10793A>G (AKAP9) MANE Select NP_005742.4:p.His3598Arg
ENST00000356239.8:c.10793A>G (AKAP9) MANE Select ENSP00000348573.3:p.His3598Arg
NM_001379277.1:c.5438A>G (AKAP9) NP_001366206.1:p.His1813Arg
NM_005751.4:c.10793A>G , LRG_331t1:c.10793A>G (AKAP9) NP_005742.4:p.His3598Arg
NM_147185.2:c.10769A>G (AKAP9) NP_671714.1:p.His3590Arg
NM_147185.3:c.10769A>G (AKAP9) NP_671714.1:p.His3590Arg
ENST00000356239.7:c.10793A>G (AKAP9) ENSP00000348573.3:p.His3598Arg
ENST00000359028.6:c.10802A>G (AKAP9) ENSP00000351922.3:p.His3601Arg
ENST00000359028.7:c.10865A>G (AKAP9) ENSP00000351922.4:p.His3622Arg
ENST00000394534.6:c.4331A>G (AKAP9) ENSP00000378042.2:p.His1444Arg
ENST00000394534.7:c.3785A>G (AKAP9) ENSP00000378042.3:p.His1262Arg
ENST00000463118.1:n.141A>G (AKAP9)
ENST00000463118.2:n.141A>G (AKAP9)
ENST00000486313.2:c.281A>G (AKAP9) ENSP00000505389.1:p.His94Arg
ENST00000487258.5:n.2543A>G (AKAP9)
ENST00000487692.1:n.593A>G (AKAP9)
ENST00000487692.2:n.2871A>G (AKAP9)
ENST00000491695.2:c.5438A>G (AKAP9) ENSP00000494626.2:p.His1813Arg
ENST00000679448.1:c.*1673A>G (AKAP9) ENSP00000505889.1:n.*1673A>G
ENST00000679457.1:c.10769A>G (AKAP9) ENSP00000505450.1:p.His3590Arg
ENST00000679474.1:n.10991A>G (AKAP9)
ENST00000679521.1:c.10739A>G (AKAP9) ENSP00000505456.1:p.His3580Arg
ENST00000679821.1:c.10535A>G (AKAP9) ENSP00000506040.1:p.His3512Arg
ENST00000680047.1:n.12463A>G (AKAP9)
ENST00000680072.1:c.10616A>G (AKAP9) ENSP00000506581.1:p.His3539Arg
ENST00000680181.1:c.10700A>G (AKAP9) ENSP00000505548.1:p.His3567Arg
ENST00000680365.1:c.4432A>G (AKAP9) ENSP00000506019.1:n.4432A>G
ENST00000680513.1:c.10652A>G (AKAP9) ENSP00000505284.1:p.His3551Arg
ENST00000680534.1:c.10832A>G (AKAP9) ENSP00000506674.1:p.His3611Arg
ENST00000680766.1:c.10769A>G (AKAP9) ENSP00000505204.1:p.His3590Arg
ENST00000680952.1:c.10769A>G (AKAP9) ENSP00000506407.1:p.His3590Arg
ENST00000681216.1:c.4553A>G (AKAP9) ENSP00000505551.1:n.4553A>G
ENST00000681412.1:c.10793A>G (AKAP9) ENSP00000506486.1:p.His3598Arg
ENST00000681722.1:c.10769A>G (AKAP9) ENSP00000506566.1:p.His3590Arg
ENST00000691309.1:c.1352-14164T>C (CYP51A1) ENSP00000510368.1:n.1352-14164T>C
XM_006715827.1:c.10652A>G (AKAP9) XP_006715890.1:p.His3551Arg
XM_011515709.1:c.10940A>G (AKAP9) XP_011514011.1:p.His3647Arg
XM_011515710.1:c.10964A>G (AKAP9) XP_011514012.1:p.His3655Arg
XM_011515711.1:c.10904A>G (AKAP9) XP_011514013.1:p.His3635Arg
XM_011515712.1:c.10901A>G (AKAP9) XP_011514014.1:p.His3634Arg
XM_011515713.1:c.10886A>G (AKAP9) XP_011514015.1:p.His3629Arg
XM_011515714.1:c.10925A>G (AKAP9) XP_011514016.1:p.His3642Arg
XM_011515716.1:c.10844A>G (AKAP9) XP_011514018.1:p.His3615Arg
XM_011515717.1:c.10799A>G (AKAP9) XP_011514019.1:p.His3600Arg
XM_011515718.1:c.10829A>G (AKAP9) XP_011514020.1:p.His3610Arg
XM_011515719.1:c.10805A>G (AKAP9) XP_011514021.1:p.His3602Arg
XM_011515721.1:c.5453A>G (AKAP9) XP_011514023.1:p.His1818Arg
XM_011515722.1:c.5414A>G (AKAP9) XP_011514024.1:p.His1805Arg
XM_017011642.2:c.10928A>G (AKAP9) XP_016867131.1:p.His3643Arg
XM_017011643.2:c.10889A>G (AKAP9) XP_016867132.1:p.His3630Arg
XM_017011644.2:c.10928A>G (AKAP9) XP_016867133.1:p.His3643Arg
XM_017011645.2:c.10874A>G (AKAP9) XP_016867134.1:p.His3625Arg
XM_017011646.2:c.10889A>G (AKAP9) XP_016867135.1:p.His3630Arg
XM_017011647.2:c.10835A>G (AKAP9) XP_016867136.1:p.His3612Arg
XM_017011648.2:c.10832A>G (AKAP9) XP_016867137.1:p.His3611Arg
XM_017011649.2:c.10865A>G (AKAP9) XP_016867138.1:p.His3622Arg
XM_017011650.2:c.10793A>G (AKAP9) XP_016867139.1:p.His3598Arg
XM_017011651.2:c.10787A>G (AKAP9) XP_016867140.1:p.His3596Arg
XM_017011652.2:c.10739A>G (AKAP9) XP_016867141.1:p.His3580Arg
XM_017011653.2:c.10700A>G (AKAP9) XP_016867142.1:p.His3567Arg
XM_017011654.2:c.10652A>G (AKAP9) XP_016867143.1:p.His3551Arg
XM_017011655.2:c.10556A>G (AKAP9) XP_016867144.1:p.His3519Arg
XM_017011656.2:c.10556A>G (AKAP9) XP_016867145.1:p.His3519Arg
XM_017011657.2:c.6593A>G (AKAP9) XP_016867146.1:p.His2198Arg
XM_017011658.2:c.5477A>G (AKAP9) XP_016867147.1:p.His1826Arg
XM_017011659.2:c.5438A>G (AKAP9) XP_016867148.1:p.His1813Arg
XM_017011660.2:c.5438A>G (AKAP9) XP_016867149.1:p.His1813Arg
XM_024446631.1:c.10691A>G (AKAP9) XP_024302399.1:p.His3564Arg