Canonical Allele Identifier: CA1266580
Community Standard Title: NM_144696.6(AXDND1):c.2051G>A (p.Gly684Asp)
Gene: AXDND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179483181G>A , CM000663.2:g.179483181G>A GRCh38
NC_000001.10:g.179452316G>A , CM000663.1:g.179452316G>A GRCh37
NC_000001.9:g.177718939G>A NCBI36
NG_033075.1:g.122462G>A

Transcript Alleles

HGVS Amino-acid Change
NM_144696.6:c.2051G>A MANE Select NP_653297.3:p.Gly684Asp
ENST00000367618.8:c.2051G>A MANE Select ENSP00000356590.3:p.Gly684Asp
NM_144696.5:c.2051G>A NP_653297.3:p.Gly684Asp
NR_073544.1:n.2077G>A
NR_073544.2:n.2005G>A
ENST00000367618.7:c.2051G>A ENSP00000356590.3:p.Gly684Asp
ENST00000434088.1:c.1853G>A ENSP00000391716.1:p.Gly618Asp
ENST00000457238.6:c.*30G>A ENSP00000416712.3:n.*30G>A
ENST00000511157.5:c.*226G>A ENSP00000424373.1:n.*226G>A
ENST00000617277.4:c.*226G>A ENSP00000482167.1:n.*226G>A
XM_011509165.1:c.2051G>A XP_011507467.1:p.Gly684Asp
XM_011509166.1:c.2051G>A XP_011507468.1:p.Gly684Asp
XM_011509166.3:c.2051G>A XP_011507468.1:p.Gly684Asp
XM_011509167.1:c.2051G>A XP_011507469.1:p.Gly684Asp
XM_011509167.3:c.2051G>A XP_011507469.1:p.Gly684Asp
XM_011509168.1:c.2051G>A XP_011507470.1:p.Gly684Asp
XM_011509169.1:c.1988G>A XP_011507471.1:p.Gly663Asp
XM_011509170.1:c.2051G>A XP_011507472.1:p.Gly684Asp
XM_011509171.1:c.1925G>A XP_011507473.1:p.Gly642Asp
XM_011509172.1:c.1925G>A XP_011507474.1:p.Gly642Asp
XM_011509173.1:c.1925G>A XP_011507475.1:p.Gly642Asp
XM_011509174.1:c.2051G>A XP_011507476.1:p.Gly684Asp
XM_011509175.1:c.2051G>A XP_011507477.1:p.Gly684Asp
XM_011509176.1:c.2051G>A XP_011507478.1:p.Gly684Asp
XM_011509177.1:c.2051G>A XP_011507479.1:p.Gly684Asp
XM_011509178.1:c.2051G>A XP_011507480.1:p.Gly684Asp
XM_011509178.2:c.2051G>A XP_011507480.1:p.Gly684Asp
XM_011509179.1:c.1415G>A XP_011507481.1:p.Gly472Asp
XM_011509179.2:c.1415G>A XP_011507481.1:p.Gly472Asp
XM_011509180.1:c.2051G>A XP_011507482.1:p.Gly684Asp
XM_011509181.1:c.974G>A XP_011507483.1:p.Gly325Asp
XM_011509181.2:c.974G>A XP_011507483.1:p.Gly325Asp
XM_017000257.2:c.1310G>A XP_016855746.1:p.Gly437Asp
XM_017000258.2:c.1172G>A XP_016855747.1:p.Gly391Asp
XM_024453104.1:c.1925G>A XP_024308872.1:p.Gly642Asp
XM_024453107.1:c.1925G>A XP_024308875.1:p.Gly642Asp
XR_002959336.1:n.2560G>A
XR_921741.1:n.2417G>A
XR_921742.1:n.2417G>A
XR_921742.2:n.2417G>A
XR_921743.1:n.2560G>A