Canonical Allele Identifier: CA413701283
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574352C>G , CM000685.2:g.77574352C>G GRCh38
NC_000023.10:g.76829817C>G , CM000685.1:g.76829817C>G GRCh37
NC_000023.9:g.76716473C>G NCBI36
NG_008838.2:g.216870G>C
NG_008838.3:g.216918G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6224G>C MANE Select ENSP00000362441.4:p.Gly2075Ala
ENST00000636152.1:n.59G>C
ENST00000675732.1:c.1322G>C ENSP00000502598.1:p.Gly441Ala
ENST00000373344.9:c.6224G>C ENSP00000362441.4:p.Gly2075Ala
ENST00000395603.7:c.6110G>C ENSP00000378967.3:p.Gly2037Ala
ENST00000480283.5:c.*5852G>C ENSP00000480196.1:n.*5852G>C
ENST00000623316.1:c.708G>C
ENST00000623706.3:n.3294G>C
NM_000489.4:c.6224G>C NP_000480.3:p.Gly2075Ala
NM_138270.3:c.6110G>C NP_612114.2:p.Gly2037Ala
XM_005262153.3:c.6221G>C XP_005262210.2:p.Gly2074Ala
XM_005262154.3:c.6137G>C XP_005262211.2:p.Gly2046Ala
XM_005262155.3:c.6107G>C XP_005262212.2:p.Gly2036Ala
XM_005262156.3:c.6059G>C XP_005262213.2:p.Gly2020Ala
XM_005262157.3:c.6020G>C XP_005262214.2:p.Gly2007Ala
XM_006724666.2:c.6107G>C XP_006724729.1:p.Gly2036Ala
XM_006724667.2:c.5945G>C XP_006724730.1:p.Gly1982Ala
XR_938400.1:n.6566G>C
NM_000489.5:c.6224G>C NP_000480.3:p.Gly2075Ala
XM_005262153.5:c.6221G>C XP_005262210.2:p.Gly2074Ala
XM_005262154.5:c.6137G>C XP_005262211.2:p.Gly2046Ala
XM_005262155.4:c.6107G>C XP_005262212.2:p.Gly2036Ala
XM_005262156.4:c.6059G>C XP_005262213.2:p.Gly2020Ala
XM_005262157.5:c.6020G>C XP_005262214.2:p.Gly2007Ala
XM_006724666.4:c.6107G>C XP_006724729.1:p.Gly2036Ala
XM_006724667.3:c.5945G>C XP_006724730.1:p.Gly1982Ala
XM_017029601.2:c.6134G>C XP_016885090.1:p.Gly2045Ala
XM_017029602.1:c.6104G>C XP_016885091.1:p.Gly2035Ala
XM_017029603.1:c.6056G>C XP_016885092.1:p.Gly2019Ala
XM_017029604.2:c.6023G>C XP_016885093.1:p.Gly2008Ala
XM_017029605.1:c.6020G>C XP_016885094.1:p.Gly2007Ala
XM_017029606.2:c.5993G>C XP_016885095.1:p.Gly1998Ala
XM_017029607.2:c.5990G>C XP_016885096.1:p.Gly1997Ala
XM_017029608.2:c.5942G>C XP_016885097.1:p.Gly1981Ala
XM_017029609.1:c.5906G>C XP_016885098.1:p.Gly1969Ala
XM_017029610.1:c.5903G>C XP_016885099.1:p.Gly1968Ala
XM_017029611.1:c.5858G>C XP_016885100.1:p.Gly1953Ala
XR_001755700.2:n.6523G>C
NM_138270.4:c.6110G>C NP_612114.2:p.Gly2037Ala
NM_000489.6:c.6224G>C MANE Select NP_000480.3:p.Gly2075Ala
NM_138270.5:c.6110G>C NP_612114.2:p.Gly2037Ala