Canonical Allele Identifier: CA517471194
Gene: ATRX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.76907643A>G (hg19)

Genomic Alleles

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

Transcript Alleles

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