Canonical Allele Identifier: CA2438976955
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652323C= , CM000685.2:g.77652323C= GRCh38
NC_000023.10:g.76907813C= , CM000685.1:g.76907813C= GRCh37
NC_000023.9:g.76794469C= NCBI36
NG_008838.2:g.138899G=
NG_008838.3:g.138947G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4348G= MANE Select ENSP00000362441.4:p.Glu1450=
ENST00000373344.9:c.4348G= ENSP00000362441.4:p.Glu1450=
ENST00000395603.7:c.4234G= ENSP00000378967.3:p.Glu1412=
ENST00000480283.5:c.*3976G= ENSP00000480196.1:n.*3976G=
NM_000489.4:c.4348G= NP_000480.3:p.Glu1450=
NM_138270.3:c.4234G= NP_612114.2:p.Glu1412=
XM_005262153.3:c.4345G= XP_005262210.2:p.Glu1449=
XM_005262154.3:c.4261G= XP_005262211.2:p.Glu1421=
XM_005262155.3:c.4231G= XP_005262212.2:p.Glu1411=
XM_005262156.3:c.4183G= XP_005262213.2:p.Glu1395=
XM_005262157.3:c.4144G= XP_005262214.2:p.Glu1382=
XM_006724666.2:c.4231G= XP_006724729.1:p.Glu1411=
XM_006724667.2:c.4069G= XP_006724730.1:p.Glu1357=
XM_006724668.2:c.4348G= XP_006724731.1:p.Glu1450=
XR_938400.1:n.4616G=
NM_000489.5:c.4348G= NP_000480.3:p.Glu1450=
XM_005262153.5:c.4345G= XP_005262210.2:p.Glu1449=
XM_005262154.5:c.4261G= XP_005262211.2:p.Glu1421=
XM_005262155.4:c.4231G= XP_005262212.2:p.Glu1411=
XM_005262156.4:c.4183G= XP_005262213.2:p.Glu1395=
XM_005262157.5:c.4144G= XP_005262214.2:p.Glu1382=
XM_006724666.4:c.4231G= XP_006724729.1:p.Glu1411=
XM_006724667.3:c.4069G= XP_006724730.1:p.Glu1357=
XM_006724668.3:c.4348G= XP_006724731.1:p.Glu1450=
XM_017029601.2:c.4258G= XP_016885090.1:p.Glu1420=
XM_017029602.1:c.4228G= XP_016885091.1:p.Glu1410=
XM_017029603.1:c.4180G= XP_016885092.1:p.Glu1394=
XM_017029604.2:c.4147G= XP_016885093.1:p.Glu1383=
XM_017029605.1:c.4144G= XP_016885094.1:p.Glu1382=
XM_017029606.2:c.4117G= XP_016885095.1:p.Glu1373=
XM_017029607.2:c.4114G= XP_016885096.1:p.Glu1372=
XM_017029608.2:c.4066G= XP_016885097.1:p.Glu1356=
XM_017029609.1:c.4030G= XP_016885098.1:p.Glu1344=
XM_017029610.1:c.4027G= XP_016885099.1:p.Glu1343=
XM_017029611.1:c.3982G= XP_016885100.1:p.Glu1328=
XR_001755700.2:n.4573G=
NM_138270.4:c.4234G= NP_612114.2:p.Glu1412=
NM_000489.6:c.4348G= MANE Select NP_000480.3:p.Glu1450=
NM_138270.5:c.4234G= NP_612114.2:p.Glu1412=