Canonical Allele Identifier: CA1266146
Community Standard Title: NM_144696.6(AXDND1):c.737C>G (p.Thr246Arg)
Gene: AXDND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179383540C>G , CM000663.2:g.179383540C>G GRCh38
NC_000001.10:g.179352675C>G , CM000663.1:g.179352675C>G GRCh37
NC_000001.9:g.177619298C>G NCBI36
NG_033075.1:g.22821C>G

Transcript Alleles

HGVS Amino-acid Change
NM_144696.6:c.737C>G MANE Select NP_653297.3:p.Thr246Arg
ENST00000367618.8:c.737C>G MANE Select ENSP00000356590.3:p.Thr246Arg
NM_144696.5:c.737C>G NP_653297.3:p.Thr246Arg
NR_073544.1:n.998C>G
NR_073544.2:n.926C>G
ENST00000367618.7:c.737C>G ENSP00000356590.3:p.Thr246Arg
ENST00000434088.1:c.539C>G ENSP00000391716.1:p.Thr180Arg
ENST00000457238.6:c.737C>G ENSP00000416712.3:p.Thr246Arg
ENST00000461179.2:n.491C>G
ENST00000510593.5:n.507C>G
ENST00000511157.5:c.737C>G ENSP00000424373.1:p.Thr246Arg
ENST00000617277.4:c.737C>G ENSP00000482167.1:p.Thr246Arg
XM_011509165.1:c.737C>G XP_011507467.1:p.Thr246Arg
XM_011509166.1:c.737C>G XP_011507468.1:p.Thr246Arg
XM_011509166.3:c.737C>G XP_011507468.1:p.Thr246Arg
XM_011509167.1:c.737C>G XP_011507469.1:p.Thr246Arg
XM_011509167.3:c.737C>G XP_011507469.1:p.Thr246Arg
XM_011509168.1:c.737C>G XP_011507470.1:p.Thr246Arg
XM_011509169.1:c.674C>G XP_011507471.1:p.Thr225Arg
XM_011509170.1:c.737C>G XP_011507472.1:p.Thr246Arg
XM_011509171.1:c.611C>G XP_011507473.1:p.Thr204Arg
XM_011509172.1:c.611C>G XP_011507474.1:p.Thr204Arg
XM_011509173.1:c.611C>G XP_011507475.1:p.Thr204Arg
XM_011509174.1:c.737C>G XP_011507476.1:p.Thr246Arg
XM_011509175.1:c.737C>G XP_011507477.1:p.Thr246Arg
XM_011509176.1:c.737C>G XP_011507478.1:p.Thr246Arg
XM_011509177.1:c.737C>G XP_011507479.1:p.Thr246Arg
XM_011509178.1:c.737C>G XP_011507480.1:p.Thr246Arg
XM_011509178.2:c.737C>G XP_011507480.1:p.Thr246Arg
XM_011509179.1:c.101C>G XP_011507481.1:p.Thr34Arg
XM_011509179.2:c.101C>G XP_011507481.1:p.Thr34Arg
XM_011509180.1:c.737C>G XP_011507482.1:p.Thr246Arg
XM_017000257.2:c.-1+784C>G XP_016855746.1:n.-1+784C>G
XM_017000258.2:c.-171+784C>G XP_016855747.1:n.-171+784C>G
XM_024453104.1:c.611C>G XP_024308872.1:p.Thr204Arg
XM_024453107.1:c.611C>G XP_024308875.1:p.Thr204Arg
XR_002959336.1:n.1103C>G
XR_921741.1:n.1103C>G
XR_921742.1:n.1103C>G
XR_921742.2:n.1103C>G
XR_921743.1:n.1103C>G