Canonical Allele Identifier: CA517471195

Gene: ATRX

Linked Data

• dbSNP Id: rs2148436023
• MyVariant Identifiers: chrX:g.76907643A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652153A>T , CM000685.2:g.77652153A>T	GRCh38
NC_000023.10:g.76907643A>T , CM000685.1:g.76907643A>T	GRCh37
NC_000023.9:g.76794299A>T	NCBI36
NG_008838.2:g.139069T>A
NG_008838.3:g.139117T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4518T>A MANE Select	ENSP00000362441.4:p.Arg1506=
ENST00000373344.9:c.4518T>A	ENSP00000362441.4:p.Arg1506=
ENST00000395603.7:c.4404T>A	ENSP00000378967.3:p.Arg1468=
ENST00000480283.5:c.*4146T>A	ENSP00000480196.1:n.*4146T>A
ENST00000623242.3:c.124T>A
NM_000489.4:c.4518T>A	NP_000480.3:p.Arg1506=
NM_138270.3:c.4404T>A	NP_612114.2:p.Arg1468=
XM_005262153.3:c.4515T>A	XP_005262210.2:p.Arg1505=
XM_005262154.3:c.4431T>A	XP_005262211.2:p.Arg1477=
XM_005262155.3:c.4401T>A	XP_005262212.2:p.Arg1467=
XM_005262156.3:c.4353T>A	XP_005262213.2:p.Arg1451=
XM_005262157.3:c.4314T>A	XP_005262214.2:p.Arg1438=
XM_006724666.2:c.4401T>A	XP_006724729.1:p.Arg1467=
XM_006724667.2:c.4239T>A	XP_006724730.1:p.Arg1413=
XM_006724668.2:c.4518T>A	XP_006724731.1:p.Arg1506=
XR_938400.1:n.4786T>A
NM_000489.5:c.4518T>A	NP_000480.3:p.Arg1506=
XM_005262153.5:c.4515T>A	XP_005262210.2:p.Arg1505=
XM_005262154.5:c.4431T>A	XP_005262211.2:p.Arg1477=
XM_005262155.4:c.4401T>A	XP_005262212.2:p.Arg1467=
XM_005262156.4:c.4353T>A	XP_005262213.2:p.Arg1451=
XM_005262157.5:c.4314T>A	XP_005262214.2:p.Arg1438=
XM_006724666.4:c.4401T>A	XP_006724729.1:p.Arg1467=
XM_006724667.3:c.4239T>A	XP_006724730.1:p.Arg1413=
XM_006724668.3:c.4518T>A	XP_006724731.1:p.Arg1506=
XM_017029601.2:c.4428T>A	XP_016885090.1:p.Arg1476=
XM_017029602.1:c.4398T>A	XP_016885091.1:p.Arg1466=
XM_017029603.1:c.4350T>A	XP_016885092.1:p.Arg1450=
XM_017029604.2:c.4317T>A	XP_016885093.1:p.Arg1439=
XM_017029605.1:c.4314T>A	XP_016885094.1:p.Arg1438=
XM_017029606.2:c.4287T>A	XP_016885095.1:p.Arg1429=
XM_017029607.2:c.4284T>A	XP_016885096.1:p.Arg1428=
XM_017029608.2:c.4236T>A	XP_016885097.1:p.Arg1412=
XM_017029609.1:c.4200T>A	XP_016885098.1:p.Arg1400=
XM_017029610.1:c.4197T>A	XP_016885099.1:p.Arg1399=
XM_017029611.1:c.4152T>A	XP_016885100.1:p.Arg1384=
XR_001755700.2:n.4743T>A
NM_138270.4:c.4404T>A	NP_612114.2:p.Arg1468=
NM_000489.6:c.4518T>A MANE Select	NP_000480.3:p.Arg1506=
NM_138270.5:c.4404T>A	NP_612114.2:p.Arg1468=