Canonical Allele Identifier: CA413701173
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574323G>C , CM000685.2:g.77574323G>C GRCh38
NC_000023.10:g.76829788G>C , CM000685.1:g.76829788G>C GRCh37
NC_000023.9:g.76716444G>C NCBI36
NG_008838.2:g.216899C>G
NG_008838.3:g.216947C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6253C>G MANE Select ENSP00000362441.4:p.Arg2085Gly
ENST00000636152.1:n.88C>G
ENST00000675732.1:c.1351C>G ENSP00000502598.1:p.Arg451Gly
ENST00000373344.9:c.6253C>G ENSP00000362441.4:p.Arg2085Gly
ENST00000395603.7:c.6139C>G ENSP00000378967.3:p.Arg2047Gly
ENST00000480283.5:c.*5881C>G ENSP00000480196.1:n.*5881C>G
ENST00000623316.1:c.737C>G
ENST00000623706.3:n.3323C>G
NM_000489.4:c.6253C>G NP_000480.3:p.Arg2085Gly
NM_138270.3:c.6139C>G NP_612114.2:p.Arg2047Gly
XM_005262153.3:c.6250C>G XP_005262210.2:p.Arg2084Gly
XM_005262154.3:c.6166C>G XP_005262211.2:p.Arg2056Gly
XM_005262155.3:c.6136C>G XP_005262212.2:p.Arg2046Gly
XM_005262156.3:c.6088C>G XP_005262213.2:p.Arg2030Gly
XM_005262157.3:c.6049C>G XP_005262214.2:p.Arg2017Gly
XM_006724666.2:c.6136C>G XP_006724729.1:p.Arg2046Gly
XM_006724667.2:c.5974C>G XP_006724730.1:p.Arg1992Gly
XR_938400.1:n.6595C>G
NM_000489.5:c.6253C>G NP_000480.3:p.Arg2085Gly
XM_005262153.5:c.6250C>G XP_005262210.2:p.Arg2084Gly
XM_005262154.5:c.6166C>G XP_005262211.2:p.Arg2056Gly
XM_005262155.4:c.6136C>G XP_005262212.2:p.Arg2046Gly
XM_005262156.4:c.6088C>G XP_005262213.2:p.Arg2030Gly
XM_005262157.5:c.6049C>G XP_005262214.2:p.Arg2017Gly
XM_006724666.4:c.6136C>G XP_006724729.1:p.Arg2046Gly
XM_006724667.3:c.5974C>G XP_006724730.1:p.Arg1992Gly
XM_017029601.2:c.6163C>G XP_016885090.1:p.Arg2055Gly
XM_017029602.1:c.6133C>G XP_016885091.1:p.Arg2045Gly
XM_017029603.1:c.6085C>G XP_016885092.1:p.Arg2029Gly
XM_017029604.2:c.6052C>G XP_016885093.1:p.Arg2018Gly
XM_017029605.1:c.6049C>G XP_016885094.1:p.Arg2017Gly
XM_017029606.2:c.6022C>G XP_016885095.1:p.Arg2008Gly
XM_017029607.2:c.6019C>G XP_016885096.1:p.Arg2007Gly
XM_017029608.2:c.5971C>G XP_016885097.1:p.Arg1991Gly
XM_017029609.1:c.5935C>G XP_016885098.1:p.Arg1979Gly
XM_017029610.1:c.5932C>G XP_016885099.1:p.Arg1978Gly
XM_017029611.1:c.5887C>G XP_016885100.1:p.Arg1963Gly
XR_001755700.2:n.6552C>G
NM_138270.4:c.6139C>G NP_612114.2:p.Arg2047Gly
NM_000489.6:c.6253C>G MANE Select NP_000480.3:p.Arg2085Gly
NM_138270.5:c.6139C>G NP_612114.2:p.Arg2047Gly