Canonical Allele Identifier: CA2438976806
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652189T= , CM000685.2:g.77652189T= GRCh38
NC_000023.10:g.76907679T= , CM000685.1:g.76907679T= GRCh37
NC_000023.9:g.76794335T= NCBI36
NG_008838.2:g.139033A=
NG_008838.3:g.139081A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4482A= MANE Select ENSP00000362441.4:p.Gln1494=
ENST00000373344.9:c.4482A= ENSP00000362441.4:p.Gln1494=
ENST00000395603.7:c.4368A= ENSP00000378967.3:p.Gln1456=
ENST00000480283.5:c.*4110A= ENSP00000480196.1:n.*4110A=
ENST00000623242.3:c.88A=
NM_000489.4:c.4482A= NP_000480.3:p.Gln1494=
NM_138270.3:c.4368A= NP_612114.2:p.Gln1456=
XM_005262153.3:c.4479A= XP_005262210.2:p.Gln1493=
XM_005262154.3:c.4395A= XP_005262211.2:p.Gln1465=
XM_005262155.3:c.4365A= XP_005262212.2:p.Gln1455=
XM_005262156.3:c.4317A= XP_005262213.2:p.Gln1439=
XM_005262157.3:c.4278A= XP_005262214.2:p.Gln1426=
XM_006724666.2:c.4365A= XP_006724729.1:p.Gln1455=
XM_006724667.2:c.4203A= XP_006724730.1:p.Gln1401=
XM_006724668.2:c.4482A= XP_006724731.1:p.Gln1494=
XR_938400.1:n.4750A=
NM_000489.5:c.4482A= NP_000480.3:p.Gln1494=
XM_005262153.5:c.4479A= XP_005262210.2:p.Gln1493=
XM_005262154.5:c.4395A= XP_005262211.2:p.Gln1465=
XM_005262155.4:c.4365A= XP_005262212.2:p.Gln1455=
XM_005262156.4:c.4317A= XP_005262213.2:p.Gln1439=
XM_005262157.5:c.4278A= XP_005262214.2:p.Gln1426=
XM_006724666.4:c.4365A= XP_006724729.1:p.Gln1455=
XM_006724667.3:c.4203A= XP_006724730.1:p.Gln1401=
XM_006724668.3:c.4482A= XP_006724731.1:p.Gln1494=
XM_017029601.2:c.4392A= XP_016885090.1:p.Gln1464=
XM_017029602.1:c.4362A= XP_016885091.1:p.Gln1454=
XM_017029603.1:c.4314A= XP_016885092.1:p.Gln1438=
XM_017029604.2:c.4281A= XP_016885093.1:p.Gln1427=
XM_017029605.1:c.4278A= XP_016885094.1:p.Gln1426=
XM_017029606.2:c.4251A= XP_016885095.1:p.Gln1417=
XM_017029607.2:c.4248A= XP_016885096.1:p.Gln1416=
XM_017029608.2:c.4200A= XP_016885097.1:p.Gln1400=
XM_017029609.1:c.4164A= XP_016885098.1:p.Gln1388=
XM_017029610.1:c.4161A= XP_016885099.1:p.Gln1387=
XM_017029611.1:c.4116A= XP_016885100.1:p.Gln1372=
XR_001755700.2:n.4707A=
NM_138270.4:c.4368A= NP_612114.2:p.Gln1456=
NM_000489.6:c.4482A= MANE Select NP_000480.3:p.Gln1494=
NM_138270.5:c.4368A= NP_612114.2:p.Gln1456=