Canonical Allele Identifier: CA10457791

Gene: ATRX

Linked Data

• ClinVar Variation Id: 755401
• ClinVar RCV Id: RCV001396743
• dbSNP Id: rs782381607
• ExAC: X:76907718 C / T
• gnomAD v2: X-76907718-C-T
• gnomAD v4: X-77652228-C-T
• MyVariant Identifiers: chrX:g.76907718C>T (hg19) ; chrX:g.77652228C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652228C>T , CM000685.2:g.77652228C>T	GRCh38
NC_000023.10:g.76907718C>T , CM000685.1:g.76907718C>T	GRCh37
NC_000023.9:g.76794374C>T	NCBI36
NG_008838.2:g.138994G>A
NG_008838.3:g.139042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4443G>A MANE Select	ENSP00000362441.4:p.Arg1481=
ENST00000373344.9:c.4443G>A	ENSP00000362441.4:p.Arg1481=
ENST00000395603.7:c.4329G>A	ENSP00000378967.3:p.Arg1443=
ENST00000480283.5:c.*4071G>A	ENSP00000480196.1:n.*4071G>A
ENST00000623242.3:c.49G>A
NM_000489.4:c.4443G>A	NP_000480.3:p.Arg1481=
NM_138270.3:c.4329G>A	NP_612114.2:p.Arg1443=
XM_005262153.3:c.4440G>A	XP_005262210.2:p.Arg1480=
XM_005262154.3:c.4356G>A	XP_005262211.2:p.Arg1452=
XM_005262155.3:c.4326G>A	XP_005262212.2:p.Arg1442=
XM_005262156.3:c.4278G>A	XP_005262213.2:p.Arg1426=
XM_005262157.3:c.4239G>A	XP_005262214.2:p.Arg1413=
XM_006724666.2:c.4326G>A	XP_006724729.1:p.Arg1442=
XM_006724667.2:c.4164G>A	XP_006724730.1:p.Arg1388=
XM_006724668.2:c.4443G>A	XP_006724731.1:p.Arg1481=
XR_938400.1:n.4711G>A
NM_000489.5:c.4443G>A	NP_000480.3:p.Arg1481=
XM_005262153.5:c.4440G>A	XP_005262210.2:p.Arg1480=
XM_005262154.5:c.4356G>A	XP_005262211.2:p.Arg1452=
XM_005262155.4:c.4326G>A	XP_005262212.2:p.Arg1442=
XM_005262156.4:c.4278G>A	XP_005262213.2:p.Arg1426=
XM_005262157.5:c.4239G>A	XP_005262214.2:p.Arg1413=
XM_006724666.4:c.4326G>A	XP_006724729.1:p.Arg1442=
XM_006724667.3:c.4164G>A	XP_006724730.1:p.Arg1388=
XM_006724668.3:c.4443G>A	XP_006724731.1:p.Arg1481=
XM_017029601.2:c.4353G>A	XP_016885090.1:p.Arg1451=
XM_017029602.1:c.4323G>A	XP_016885091.1:p.Arg1441=
XM_017029603.1:c.4275G>A	XP_016885092.1:p.Arg1425=
XM_017029604.2:c.4242G>A	XP_016885093.1:p.Arg1414=
XM_017029605.1:c.4239G>A	XP_016885094.1:p.Arg1413=
XM_017029606.2:c.4212G>A	XP_016885095.1:p.Arg1404=
XM_017029607.2:c.4209G>A	XP_016885096.1:p.Arg1403=
XM_017029608.2:c.4161G>A	XP_016885097.1:p.Arg1387=
XM_017029609.1:c.4125G>A	XP_016885098.1:p.Arg1375=
XM_017029610.1:c.4122G>A	XP_016885099.1:p.Arg1374=
XM_017029611.1:c.4077G>A	XP_016885100.1:p.Arg1359=
XR_001755700.2:n.4668G>A
NM_138270.4:c.4329G>A	NP_612114.2:p.Arg1443=
NM_000489.6:c.4443G>A MANE Select	NP_000480.3:p.Arg1481=
NM_138270.5:c.4329G>A	NP_612114.2:p.Arg1443=