Canonical Allele Identifier: CA413708532
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652274T>C , CM000685.2:g.77652274T>C GRCh38
NC_000023.10:g.76907764T>C , CM000685.1:g.76907764T>C GRCh37
NC_000023.9:g.76794420T>C NCBI36
NG_008838.2:g.138948A>G
NG_008838.3:g.138996A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4397A>G MANE Select ENSP00000362441.4:p.Glu1466Gly
ENST00000373344.9:c.4397A>G ENSP00000362441.4:p.Glu1466Gly
ENST00000395603.7:c.4283A>G ENSP00000378967.3:p.Glu1428Gly
ENST00000480283.5:c.*4025A>G ENSP00000480196.1:n.*4025A>G
ENST00000623242.3:c.3A>G
NM_000489.4:c.4397A>G NP_000480.3:p.Glu1466Gly
NM_138270.3:c.4283A>G NP_612114.2:p.Glu1428Gly
XM_005262153.3:c.4394A>G XP_005262210.2:p.Glu1465Gly
XM_005262154.3:c.4310A>G XP_005262211.2:p.Glu1437Gly
XM_005262155.3:c.4280A>G XP_005262212.2:p.Glu1427Gly
XM_005262156.3:c.4232A>G XP_005262213.2:p.Glu1411Gly
XM_005262157.3:c.4193A>G XP_005262214.2:p.Glu1398Gly
XM_006724666.2:c.4280A>G XP_006724729.1:p.Glu1427Gly
XM_006724667.2:c.4118A>G XP_006724730.1:p.Glu1373Gly
XM_006724668.2:c.4397A>G XP_006724731.1:p.Glu1466Gly
XR_938400.1:n.4665A>G
NM_000489.5:c.4397A>G NP_000480.3:p.Glu1466Gly
XM_005262153.5:c.4394A>G XP_005262210.2:p.Glu1465Gly
XM_005262154.5:c.4310A>G XP_005262211.2:p.Glu1437Gly
XM_005262155.4:c.4280A>G XP_005262212.2:p.Glu1427Gly
XM_005262156.4:c.4232A>G XP_005262213.2:p.Glu1411Gly
XM_005262157.5:c.4193A>G XP_005262214.2:p.Glu1398Gly
XM_006724666.4:c.4280A>G XP_006724729.1:p.Glu1427Gly
XM_006724667.3:c.4118A>G XP_006724730.1:p.Glu1373Gly
XM_006724668.3:c.4397A>G XP_006724731.1:p.Glu1466Gly
XM_017029601.2:c.4307A>G XP_016885090.1:p.Glu1436Gly
XM_017029602.1:c.4277A>G XP_016885091.1:p.Glu1426Gly
XM_017029603.1:c.4229A>G XP_016885092.1:p.Glu1410Gly
XM_017029604.2:c.4196A>G XP_016885093.1:p.Glu1399Gly
XM_017029605.1:c.4193A>G XP_016885094.1:p.Glu1398Gly
XM_017029606.2:c.4166A>G XP_016885095.1:p.Glu1389Gly
XM_017029607.2:c.4163A>G XP_016885096.1:p.Glu1388Gly
XM_017029608.2:c.4115A>G XP_016885097.1:p.Glu1372Gly
XM_017029609.1:c.4079A>G XP_016885098.1:p.Glu1360Gly
XM_017029610.1:c.4076A>G XP_016885099.1:p.Glu1359Gly
XM_017029611.1:c.4031A>G XP_016885100.1:p.Glu1344Gly
XR_001755700.2:n.4622A>G
NM_138270.4:c.4283A>G NP_612114.2:p.Glu1428Gly
NM_000489.6:c.4397A>G MANE Select NP_000480.3:p.Glu1466Gly
NM_138270.5:c.4283A>G NP_612114.2:p.Glu1428Gly