Canonical Allele Identifier: CA517471451
Gene: ATRX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.76907693T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652203T>G , CM000685.2:g.77652203T>G GRCh38
NC_000023.10:g.76907693T>G , CM000685.1:g.76907693T>G GRCh37
NC_000023.9:g.76794349T>G NCBI36
NG_008838.2:g.139019A>C
NG_008838.3:g.139067A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4468A>C MANE Select ENSP00000362441.4:p.Arg1490=
ENST00000373344.9:c.4468A>C ENSP00000362441.4:p.Arg1490=
ENST00000395603.7:c.4354A>C ENSP00000378967.3:p.Arg1452=
ENST00000480283.5:c.*4096A>C ENSP00000480196.1:n.*4096A>C
ENST00000623242.3:c.74A>C
NM_000489.4:c.4468A>C NP_000480.3:p.Arg1490=
NM_138270.3:c.4354A>C NP_612114.2:p.Arg1452=
XM_005262153.3:c.4465A>C XP_005262210.2:p.Arg1489=
XM_005262154.3:c.4381A>C XP_005262211.2:p.Arg1461=
XM_005262155.3:c.4351A>C XP_005262212.2:p.Arg1451=
XM_005262156.3:c.4303A>C XP_005262213.2:p.Arg1435=
XM_005262157.3:c.4264A>C XP_005262214.2:p.Arg1422=
XM_006724666.2:c.4351A>C XP_006724729.1:p.Arg1451=
XM_006724667.2:c.4189A>C XP_006724730.1:p.Arg1397=
XM_006724668.2:c.4468A>C XP_006724731.1:p.Arg1490=
XR_938400.1:n.4736A>C
NM_000489.5:c.4468A>C NP_000480.3:p.Arg1490=
XM_005262153.5:c.4465A>C XP_005262210.2:p.Arg1489=
XM_005262154.5:c.4381A>C XP_005262211.2:p.Arg1461=
XM_005262155.4:c.4351A>C XP_005262212.2:p.Arg1451=
XM_005262156.4:c.4303A>C XP_005262213.2:p.Arg1435=
XM_005262157.5:c.4264A>C XP_005262214.2:p.Arg1422=
XM_006724666.4:c.4351A>C XP_006724729.1:p.Arg1451=
XM_006724667.3:c.4189A>C XP_006724730.1:p.Arg1397=
XM_006724668.3:c.4468A>C XP_006724731.1:p.Arg1490=
XM_017029601.2:c.4378A>C XP_016885090.1:p.Arg1460=
XM_017029602.1:c.4348A>C XP_016885091.1:p.Arg1450=
XM_017029603.1:c.4300A>C XP_016885092.1:p.Arg1434=
XM_017029604.2:c.4267A>C XP_016885093.1:p.Arg1423=
XM_017029605.1:c.4264A>C XP_016885094.1:p.Arg1422=
XM_017029606.2:c.4237A>C XP_016885095.1:p.Arg1413=
XM_017029607.2:c.4234A>C XP_016885096.1:p.Arg1412=
XM_017029608.2:c.4186A>C XP_016885097.1:p.Arg1396=
XM_017029609.1:c.4150A>C XP_016885098.1:p.Arg1384=
XM_017029610.1:c.4147A>C XP_016885099.1:p.Arg1383=
XM_017029611.1:c.4102A>C XP_016885100.1:p.Arg1368=
XR_001755700.2:n.4693A>C
NM_138270.4:c.4354A>C NP_612114.2:p.Arg1452=
NM_000489.6:c.4468A>C MANE Select NP_000480.3:p.Arg1490=
NM_138270.5:c.4354A>C NP_612114.2:p.Arg1452=