Canonical Allele Identifier: CA413708867

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907812T>A (hg19) ; chrX:g.77652322T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652322T>A , CM000685.2:g.77652322T>A	GRCh38
NC_000023.10:g.76907812T>A , CM000685.1:g.76907812T>A	GRCh37
NC_000023.9:g.76794468T>A	NCBI36
NG_008838.2:g.138900A>T
NG_008838.3:g.138948A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4349A>T MANE Select	ENSP00000362441.4:p.Glu1450Val
ENST00000373344.9:c.4349A>T	ENSP00000362441.4:p.Glu1450Val
ENST00000395603.7:c.4235A>T	ENSP00000378967.3:p.Glu1412Val
ENST00000480283.5:c.*3977A>T	ENSP00000480196.1:n.*3977A>T
NM_000489.4:c.4349A>T	NP_000480.3:p.Glu1450Val
NM_138270.3:c.4235A>T	NP_612114.2:p.Glu1412Val
XM_005262153.3:c.4346A>T	XP_005262210.2:p.Glu1449Val
XM_005262154.3:c.4262A>T	XP_005262211.2:p.Glu1421Val
XM_005262155.3:c.4232A>T	XP_005262212.2:p.Glu1411Val
XM_005262156.3:c.4184A>T	XP_005262213.2:p.Glu1395Val
XM_005262157.3:c.4145A>T	XP_005262214.2:p.Glu1382Val
XM_006724666.2:c.4232A>T	XP_006724729.1:p.Glu1411Val
XM_006724667.2:c.4070A>T	XP_006724730.1:p.Glu1357Val
XM_006724668.2:c.4349A>T	XP_006724731.1:p.Glu1450Val
XR_938400.1:n.4617A>T
NM_000489.5:c.4349A>T	NP_000480.3:p.Glu1450Val
XM_005262153.5:c.4346A>T	XP_005262210.2:p.Glu1449Val
XM_005262154.5:c.4262A>T	XP_005262211.2:p.Glu1421Val
XM_005262155.4:c.4232A>T	XP_005262212.2:p.Glu1411Val
XM_005262156.4:c.4184A>T	XP_005262213.2:p.Glu1395Val
XM_005262157.5:c.4145A>T	XP_005262214.2:p.Glu1382Val
XM_006724666.4:c.4232A>T	XP_006724729.1:p.Glu1411Val
XM_006724667.3:c.4070A>T	XP_006724730.1:p.Glu1357Val
XM_006724668.3:c.4349A>T	XP_006724731.1:p.Glu1450Val
XM_017029601.2:c.4259A>T	XP_016885090.1:p.Glu1420Val
XM_017029602.1:c.4229A>T	XP_016885091.1:p.Glu1410Val
XM_017029603.1:c.4181A>T	XP_016885092.1:p.Glu1394Val
XM_017029604.2:c.4148A>T	XP_016885093.1:p.Glu1383Val
XM_017029605.1:c.4145A>T	XP_016885094.1:p.Glu1382Val
XM_017029606.2:c.4118A>T	XP_016885095.1:p.Glu1373Val
XM_017029607.2:c.4115A>T	XP_016885096.1:p.Glu1372Val
XM_017029608.2:c.4067A>T	XP_016885097.1:p.Glu1356Val
XM_017029609.1:c.4031A>T	XP_016885098.1:p.Glu1344Val
XM_017029610.1:c.4028A>T	XP_016885099.1:p.Glu1343Val
XM_017029611.1:c.3983A>T	XP_016885100.1:p.Glu1328Val
XR_001755700.2:n.4574A>T
NM_138270.4:c.4235A>T	NP_612114.2:p.Glu1412Val
NM_000489.6:c.4349A>T MANE Select	NP_000480.3:p.Glu1450Val
NM_138270.5:c.4235A>T	NP_612114.2:p.Glu1412Val