Canonical Allele Identifier: CA413708848

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907809T>A (hg19) ; chrX:g.77652319T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652319T>A , CM000685.2:g.77652319T>A	GRCh38
NC_000023.10:g.76907809T>A , CM000685.1:g.76907809T>A	GRCh37
NC_000023.9:g.76794465T>A	NCBI36
NG_008838.2:g.138903A>T
NG_008838.3:g.138951A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4352A>T MANE Select	ENSP00000362441.4:p.Glu1451Val
ENST00000373344.9:c.4352A>T	ENSP00000362441.4:p.Glu1451Val
ENST00000395603.7:c.4238A>T	ENSP00000378967.3:p.Glu1413Val
ENST00000480283.5:c.*3980A>T	ENSP00000480196.1:n.*3980A>T
NM_000489.4:c.4352A>T	NP_000480.3:p.Glu1451Val
NM_138270.3:c.4238A>T	NP_612114.2:p.Glu1413Val
XM_005262153.3:c.4349A>T	XP_005262210.2:p.Glu1450Val
XM_005262154.3:c.4265A>T	XP_005262211.2:p.Glu1422Val
XM_005262155.3:c.4235A>T	XP_005262212.2:p.Glu1412Val
XM_005262156.3:c.4187A>T	XP_005262213.2:p.Glu1396Val
XM_005262157.3:c.4148A>T	XP_005262214.2:p.Glu1383Val
XM_006724666.2:c.4235A>T	XP_006724729.1:p.Glu1412Val
XM_006724667.2:c.4073A>T	XP_006724730.1:p.Glu1358Val
XM_006724668.2:c.4352A>T	XP_006724731.1:p.Glu1451Val
XR_938400.1:n.4620A>T
NM_000489.5:c.4352A>T	NP_000480.3:p.Glu1451Val
XM_005262153.5:c.4349A>T	XP_005262210.2:p.Glu1450Val
XM_005262154.5:c.4265A>T	XP_005262211.2:p.Glu1422Val
XM_005262155.4:c.4235A>T	XP_005262212.2:p.Glu1412Val
XM_005262156.4:c.4187A>T	XP_005262213.2:p.Glu1396Val
XM_005262157.5:c.4148A>T	XP_005262214.2:p.Glu1383Val
XM_006724666.4:c.4235A>T	XP_006724729.1:p.Glu1412Val
XM_006724667.3:c.4073A>T	XP_006724730.1:p.Glu1358Val
XM_006724668.3:c.4352A>T	XP_006724731.1:p.Glu1451Val
XM_017029601.2:c.4262A>T	XP_016885090.1:p.Glu1421Val
XM_017029602.1:c.4232A>T	XP_016885091.1:p.Glu1411Val
XM_017029603.1:c.4184A>T	XP_016885092.1:p.Glu1395Val
XM_017029604.2:c.4151A>T	XP_016885093.1:p.Glu1384Val
XM_017029605.1:c.4148A>T	XP_016885094.1:p.Glu1383Val
XM_017029606.2:c.4121A>T	XP_016885095.1:p.Glu1374Val
XM_017029607.2:c.4118A>T	XP_016885096.1:p.Glu1373Val
XM_017029608.2:c.4070A>T	XP_016885097.1:p.Glu1357Val
XM_017029609.1:c.4034A>T	XP_016885098.1:p.Glu1345Val
XM_017029610.1:c.4031A>T	XP_016885099.1:p.Glu1344Val
XM_017029611.1:c.3986A>T	XP_016885100.1:p.Glu1329Val
XR_001755700.2:n.4577A>T
NM_138270.4:c.4238A>T	NP_612114.2:p.Glu1413Val
NM_000489.6:c.4352A>T MANE Select	NP_000480.3:p.Glu1451Val
NM_138270.5:c.4238A>T	NP_612114.2:p.Glu1413Val