Canonical Allele Identifier: CA413708978
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652340T>C , CM000685.2:g.77652340T>C GRCh38
NC_000023.10:g.76907830T>C , CM000685.1:g.76907830T>C GRCh37
NC_000023.9:g.76794486T>C NCBI36
NG_008838.2:g.138882A>G
NG_008838.3:g.138930A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4331A>G MANE Select ENSP00000362441.4:p.Glu1444Gly
ENST00000373344.9:c.4331A>G ENSP00000362441.4:p.Glu1444Gly
ENST00000395603.7:c.4217A>G ENSP00000378967.3:p.Glu1406Gly
ENST00000480283.5:c.*3959A>G ENSP00000480196.1:n.*3959A>G
NM_000489.4:c.4331A>G NP_000480.3:p.Glu1444Gly
NM_138270.3:c.4217A>G NP_612114.2:p.Glu1406Gly
XM_005262153.3:c.4328A>G XP_005262210.2:p.Glu1443Gly
XM_005262154.3:c.4244A>G XP_005262211.2:p.Glu1415Gly
XM_005262155.3:c.4214A>G XP_005262212.2:p.Glu1405Gly
XM_005262156.3:c.4166A>G XP_005262213.2:p.Glu1389Gly
XM_005262157.3:c.4127A>G XP_005262214.2:p.Glu1376Gly
XM_006724666.2:c.4214A>G XP_006724729.1:p.Glu1405Gly
XM_006724667.2:c.4052A>G XP_006724730.1:p.Glu1351Gly
XM_006724668.2:c.4331A>G XP_006724731.1:p.Glu1444Gly
XR_938400.1:n.4599A>G
NM_000489.5:c.4331A>G NP_000480.3:p.Glu1444Gly
XM_005262153.5:c.4328A>G XP_005262210.2:p.Glu1443Gly
XM_005262154.5:c.4244A>G XP_005262211.2:p.Glu1415Gly
XM_005262155.4:c.4214A>G XP_005262212.2:p.Glu1405Gly
XM_005262156.4:c.4166A>G XP_005262213.2:p.Glu1389Gly
XM_005262157.5:c.4127A>G XP_005262214.2:p.Glu1376Gly
XM_006724666.4:c.4214A>G XP_006724729.1:p.Glu1405Gly
XM_006724667.3:c.4052A>G XP_006724730.1:p.Glu1351Gly
XM_006724668.3:c.4331A>G XP_006724731.1:p.Glu1444Gly
XM_017029601.2:c.4241A>G XP_016885090.1:p.Glu1414Gly
XM_017029602.1:c.4211A>G XP_016885091.1:p.Glu1404Gly
XM_017029603.1:c.4163A>G XP_016885092.1:p.Glu1388Gly
XM_017029604.2:c.4130A>G XP_016885093.1:p.Glu1377Gly
XM_017029605.1:c.4127A>G XP_016885094.1:p.Glu1376Gly
XM_017029606.2:c.4100A>G XP_016885095.1:p.Glu1367Gly
XM_017029607.2:c.4097A>G XP_016885096.1:p.Glu1366Gly
XM_017029608.2:c.4049A>G XP_016885097.1:p.Glu1350Gly
XM_017029609.1:c.4013A>G XP_016885098.1:p.Glu1338Gly
XM_017029610.1:c.4010A>G XP_016885099.1:p.Glu1337Gly
XM_017029611.1:c.3965A>G XP_016885100.1:p.Glu1322Gly
XR_001755700.2:n.4556A>G
NM_138270.4:c.4217A>G NP_612114.2:p.Glu1406Gly
NM_000489.6:c.4331A>G MANE Select NP_000480.3:p.Glu1444Gly
NM_138270.5:c.4217A>G NP_612114.2:p.Glu1406Gly