Canonical Allele Identifier: CA10458104
Community Standard Title: NM_000489.6(ATRX):c.2282A>G (p.His761Arg)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77682974T>C , CM000685.2:g.77682974T>C GRCh38
NC_000023.10:g.76938466T>C , CM000685.1:g.76938466T>C GRCh37
NC_000023.9:g.76825122T>C NCBI36
NG_008838.2:g.108248A>G
NG_008838.3:g.108296A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.2282A>G MANE Select NP_000480.3:p.His761Arg
ENST00000373344.11:c.2282A>G MANE Select ENSP00000362441.4:p.His761Arg
NM_000489.4:c.2282A>G NP_000480.3:p.His761Arg
NM_000489.5:c.2282A>G NP_000480.3:p.His761Arg
NM_138270.3:c.2168A>G NP_612114.2:p.His723Arg
NM_138270.4:c.2168A>G NP_612114.2:p.His723Arg
NM_138270.5:c.2168A>G NP_612114.2:p.His723Arg
ENST00000373344.9:c.2282A>G ENSP00000362441.4:p.His761Arg
ENST00000395603.7:c.2168A>G ENSP00000378967.3:p.His723Arg
ENST00000480283.5:c.*1910A>G ENSP00000480196.1:n.*1910A>G
ENST00000624032.3:c.2195A>G ENSP00000485253.1:p.His732Arg
ENST00000624166.3:c.2078A>G ENSP00000485103.1:p.His693Arg
XM_005262153.3:c.2279A>G XP_005262210.2:p.His760Arg
XM_005262153.5:c.2279A>G XP_005262210.2:p.His760Arg
XM_005262154.3:c.2195A>G XP_005262211.2:p.His732Arg
XM_005262154.5:c.2195A>G XP_005262211.2:p.His732Arg
XM_005262155.3:c.2165A>G XP_005262212.2:p.His722Arg
XM_005262155.4:c.2165A>G XP_005262212.2:p.His722Arg
XM_005262156.3:c.2117A>G XP_005262213.2:p.His706Arg
XM_005262156.4:c.2117A>G XP_005262213.2:p.His706Arg
XM_005262157.3:c.2078A>G XP_005262214.2:p.His693Arg
XM_005262157.5:c.2078A>G XP_005262214.2:p.His693Arg
XM_006724666.2:c.2165A>G XP_006724729.1:p.His722Arg
XM_006724666.4:c.2165A>G XP_006724729.1:p.His722Arg
XM_006724667.2:c.2003A>G XP_006724730.1:p.His668Arg
XM_006724667.3:c.2003A>G XP_006724730.1:p.His668Arg
XM_006724668.2:c.2282A>G XP_006724731.1:p.His761Arg
XM_006724668.3:c.2282A>G XP_006724731.1:p.His761Arg
XM_017029601.2:c.2192A>G XP_016885090.1:p.His731Arg
XM_017029602.1:c.2162A>G XP_016885091.1:p.His721Arg
XM_017029603.1:c.2114A>G XP_016885092.1:p.His705Arg
XM_017029604.2:c.2081A>G XP_016885093.1:p.His694Arg
XM_017029605.1:c.2078A>G XP_016885094.1:p.His693Arg
XM_017029606.2:c.2051A>G XP_016885095.1:p.His684Arg
XM_017029607.2:c.2048A>G XP_016885096.1:p.His683Arg
XM_017029608.2:c.2000A>G XP_016885097.1:p.His667Arg
XM_017029609.1:c.1964A>G XP_016885098.1:p.His655Arg
XM_017029610.1:c.1961A>G XP_016885099.1:p.His654Arg
XM_017029611.1:c.1916A>G XP_016885100.1:p.His639Arg
XR_001755700.2:n.2507A>G
XR_938400.1:n.2550A>G