Canonical Allele Identifier: CA331567534

Gene: ATRX

Linked Data

• dbSNP Id: rs911309935
• gnomAD v4: X-77652264-A-T
• MyVariant Identifiers: chrX:g.76907754A>T (hg19) ; chrX:g.77652264A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652264A>T , CM000685.2:g.77652264A>T	GRCh38
NC_000023.10:g.76907754A>T , CM000685.1:g.76907754A>T	GRCh37
NC_000023.9:g.76794410A>T	NCBI36
NG_008838.2:g.138958T>A
NG_008838.3:g.139006T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4407T>A MANE Select	ENSP00000362441.4:p.Asp1469Glu
ENST00000373344.9:c.4407T>A	ENSP00000362441.4:p.Asp1469Glu
ENST00000395603.7:c.4293T>A	ENSP00000378967.3:p.Asp1431Glu
ENST00000480283.5:c.*4035T>A	ENSP00000480196.1:n.*4035T>A
ENST00000623242.3:c.13T>A
NM_000489.4:c.4407T>A	NP_000480.3:p.Asp1469Glu
NM_138270.3:c.4293T>A	NP_612114.2:p.Asp1431Glu
XM_005262153.3:c.4404T>A	XP_005262210.2:p.Asp1468Glu
XM_005262154.3:c.4320T>A	XP_005262211.2:p.Asp1440Glu
XM_005262155.3:c.4290T>A	XP_005262212.2:p.Asp1430Glu
XM_005262156.3:c.4242T>A	XP_005262213.2:p.Asp1414Glu
XM_005262157.3:c.4203T>A	XP_005262214.2:p.Asp1401Glu
XM_006724666.2:c.4290T>A	XP_006724729.1:p.Asp1430Glu
XM_006724667.2:c.4128T>A	XP_006724730.1:p.Asp1376Glu
XM_006724668.2:c.4407T>A	XP_006724731.1:p.Asp1469Glu
XR_938400.1:n.4675T>A
NM_000489.5:c.4407T>A	NP_000480.3:p.Asp1469Glu
XM_005262153.5:c.4404T>A	XP_005262210.2:p.Asp1468Glu
XM_005262154.5:c.4320T>A	XP_005262211.2:p.Asp1440Glu
XM_005262155.4:c.4290T>A	XP_005262212.2:p.Asp1430Glu
XM_005262156.4:c.4242T>A	XP_005262213.2:p.Asp1414Glu
XM_005262157.5:c.4203T>A	XP_005262214.2:p.Asp1401Glu
XM_006724666.4:c.4290T>A	XP_006724729.1:p.Asp1430Glu
XM_006724667.3:c.4128T>A	XP_006724730.1:p.Asp1376Glu
XM_006724668.3:c.4407T>A	XP_006724731.1:p.Asp1469Glu
XM_017029601.2:c.4317T>A	XP_016885090.1:p.Asp1439Glu
XM_017029602.1:c.4287T>A	XP_016885091.1:p.Asp1429Glu
XM_017029603.1:c.4239T>A	XP_016885092.1:p.Asp1413Glu
XM_017029604.2:c.4206T>A	XP_016885093.1:p.Asp1402Glu
XM_017029605.1:c.4203T>A	XP_016885094.1:p.Asp1401Glu
XM_017029606.2:c.4176T>A	XP_016885095.1:p.Asp1392Glu
XM_017029607.2:c.4173T>A	XP_016885096.1:p.Asp1391Glu
XM_017029608.2:c.4125T>A	XP_016885097.1:p.Asp1375Glu
XM_017029609.1:c.4089T>A	XP_016885098.1:p.Asp1363Glu
XM_017029610.1:c.4086T>A	XP_016885099.1:p.Asp1362Glu
XM_017029611.1:c.4041T>A	XP_016885100.1:p.Asp1347Glu
XR_001755700.2:n.4632T>A
NM_138270.4:c.4293T>A	NP_612114.2:p.Asp1431Glu
NM_000489.6:c.4407T>A MANE Select	NP_000480.3:p.Asp1469Glu
NM_138270.5:c.4293T>A	NP_612114.2:p.Asp1431Glu