Canonical Allele Identifier: CA10457805

Gene: ATRX

Linked Data

• ClinVar Variation Id: 699795
• ClinVar RCV Id: RCV000867739 ; RCV003438518
• dbSNP Id: rs782044671
• ExAC: X:76907832 C / T
• gnomAD v2: X-76907832-C-T
• gnomAD v3: X-77652342-C-T
• gnomAD v4: X-77652342-C-T
• MyVariant Identifiers: chrX:g.76907832C>T (hg19) ; chrX:g.77652342C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652342C>T , CM000685.2:g.77652342C>T	GRCh38
NC_000023.10:g.76907832C>T , CM000685.1:g.76907832C>T	GRCh37
NC_000023.9:g.76794488C>T	NCBI36
NG_008838.2:g.138880G>A
NG_008838.3:g.138928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4329G>A MANE Select	ENSP00000362441.4:p.Glu1443=
ENST00000373344.9:c.4329G>A	ENSP00000362441.4:p.Glu1443=
ENST00000395603.7:c.4215G>A	ENSP00000378967.3:p.Glu1405=
ENST00000480283.5:c.*3957G>A	ENSP00000480196.1:n.*3957G>A
NM_000489.4:c.4329G>A	NP_000480.3:p.Glu1443=
NM_138270.3:c.4215G>A	NP_612114.2:p.Glu1405=
XM_005262153.3:c.4326G>A	XP_005262210.2:p.Glu1442=
XM_005262154.3:c.4242G>A	XP_005262211.2:p.Glu1414=
XM_005262155.3:c.4212G>A	XP_005262212.2:p.Glu1404=
XM_005262156.3:c.4164G>A	XP_005262213.2:p.Glu1388=
XM_005262157.3:c.4125G>A	XP_005262214.2:p.Glu1375=
XM_006724666.2:c.4212G>A	XP_006724729.1:p.Glu1404=
XM_006724667.2:c.4050G>A	XP_006724730.1:p.Glu1350=
XM_006724668.2:c.4329G>A	XP_006724731.1:p.Glu1443=
XR_938400.1:n.4597G>A
NM_000489.5:c.4329G>A	NP_000480.3:p.Glu1443=
XM_005262153.5:c.4326G>A	XP_005262210.2:p.Glu1442=
XM_005262154.5:c.4242G>A	XP_005262211.2:p.Glu1414=
XM_005262155.4:c.4212G>A	XP_005262212.2:p.Glu1404=
XM_005262156.4:c.4164G>A	XP_005262213.2:p.Glu1388=
XM_005262157.5:c.4125G>A	XP_005262214.2:p.Glu1375=
XM_006724666.4:c.4212G>A	XP_006724729.1:p.Glu1404=
XM_006724667.3:c.4050G>A	XP_006724730.1:p.Glu1350=
XM_006724668.3:c.4329G>A	XP_006724731.1:p.Glu1443=
XM_017029601.2:c.4239G>A	XP_016885090.1:p.Glu1413=
XM_017029602.1:c.4209G>A	XP_016885091.1:p.Glu1403=
XM_017029603.1:c.4161G>A	XP_016885092.1:p.Glu1387=
XM_017029604.2:c.4128G>A	XP_016885093.1:p.Glu1376=
XM_017029605.1:c.4125G>A	XP_016885094.1:p.Glu1375=
XM_017029606.2:c.4098G>A	XP_016885095.1:p.Glu1366=
XM_017029607.2:c.4095G>A	XP_016885096.1:p.Glu1365=
XM_017029608.2:c.4047G>A	XP_016885097.1:p.Glu1349=
XM_017029609.1:c.4011G>A	XP_016885098.1:p.Glu1337=
XM_017029610.1:c.4008G>A	XP_016885099.1:p.Glu1336=
XM_017029611.1:c.3963G>A	XP_016885100.1:p.Glu1321=
XR_001755700.2:n.4554G>A
NM_138270.4:c.4215G>A	NP_612114.2:p.Glu1405=
NM_000489.6:c.4329G>A MANE Select	NP_000480.3:p.Glu1443=
NM_138270.5:c.4215G>A	NP_612114.2:p.Glu1405=