Canonical Allele Identifier: CA413701290
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574353C>G , CM000685.2:g.77574353C>G GRCh38
NC_000023.10:g.76829818C>G , CM000685.1:g.76829818C>G GRCh37
NC_000023.9:g.76716474C>G NCBI36
NG_008838.2:g.216869G>C
NG_008838.3:g.216917G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6223G>C MANE Select ENSP00000362441.4:p.Gly2075Arg
ENST00000636152.1:n.58G>C
ENST00000675732.1:c.1321G>C ENSP00000502598.1:p.Gly441Arg
ENST00000373344.9:c.6223G>C ENSP00000362441.4:p.Gly2075Arg
ENST00000395603.7:c.6109G>C ENSP00000378967.3:p.Gly2037Arg
ENST00000480283.5:c.*5851G>C ENSP00000480196.1:n.*5851G>C
ENST00000623316.1:c.707G>C
ENST00000623706.3:n.3293G>C
NM_000489.4:c.6223G>C NP_000480.3:p.Gly2075Arg
NM_138270.3:c.6109G>C NP_612114.2:p.Gly2037Arg
XM_005262153.3:c.6220G>C XP_005262210.2:p.Gly2074Arg
XM_005262154.3:c.6136G>C XP_005262211.2:p.Gly2046Arg
XM_005262155.3:c.6106G>C XP_005262212.2:p.Gly2036Arg
XM_005262156.3:c.6058G>C XP_005262213.2:p.Gly2020Arg
XM_005262157.3:c.6019G>C XP_005262214.2:p.Gly2007Arg
XM_006724666.2:c.6106G>C XP_006724729.1:p.Gly2036Arg
XM_006724667.2:c.5944G>C XP_006724730.1:p.Gly1982Arg
XR_938400.1:n.6565G>C
NM_000489.5:c.6223G>C NP_000480.3:p.Gly2075Arg
XM_005262153.5:c.6220G>C XP_005262210.2:p.Gly2074Arg
XM_005262154.5:c.6136G>C XP_005262211.2:p.Gly2046Arg
XM_005262155.4:c.6106G>C XP_005262212.2:p.Gly2036Arg
XM_005262156.4:c.6058G>C XP_005262213.2:p.Gly2020Arg
XM_005262157.5:c.6019G>C XP_005262214.2:p.Gly2007Arg
XM_006724666.4:c.6106G>C XP_006724729.1:p.Gly2036Arg
XM_006724667.3:c.5944G>C XP_006724730.1:p.Gly1982Arg
XM_017029601.2:c.6133G>C XP_016885090.1:p.Gly2045Arg
XM_017029602.1:c.6103G>C XP_016885091.1:p.Gly2035Arg
XM_017029603.1:c.6055G>C XP_016885092.1:p.Gly2019Arg
XM_017029604.2:c.6022G>C XP_016885093.1:p.Gly2008Arg
XM_017029605.1:c.6019G>C XP_016885094.1:p.Gly2007Arg
XM_017029606.2:c.5992G>C XP_016885095.1:p.Gly1998Arg
XM_017029607.2:c.5989G>C XP_016885096.1:p.Gly1997Arg
XM_017029608.2:c.5941G>C XP_016885097.1:p.Gly1981Arg
XM_017029609.1:c.5905G>C XP_016885098.1:p.Gly1969Arg
XM_017029610.1:c.5902G>C XP_016885099.1:p.Gly1968Arg
XM_017029611.1:c.5857G>C XP_016885100.1:p.Gly1953Arg
XR_001755700.2:n.6522G>C
NM_138270.4:c.6109G>C NP_612114.2:p.Gly2037Arg
NM_000489.6:c.6223G>C MANE Select NP_000480.3:p.Gly2075Arg
NM_138270.5:c.6109G>C NP_612114.2:p.Gly2037Arg