Canonical Allele Identifier: CA517471462
Gene: ATRX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.76907712A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652222A>G , CM000685.2:g.77652222A>G GRCh38
NC_000023.10:g.76907712A>G , CM000685.1:g.76907712A>G GRCh37
NC_000023.9:g.76794368A>G NCBI36
NG_008838.2:g.139000T>C
NG_008838.3:g.139048T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4449T>C MANE Select ENSP00000362441.4:p.Ile1483=
ENST00000373344.9:c.4449T>C ENSP00000362441.4:p.Ile1483=
ENST00000395603.7:c.4335T>C ENSP00000378967.3:p.Ile1445=
ENST00000480283.5:c.*4077T>C ENSP00000480196.1:n.*4077T>C
ENST00000623242.3:c.55T>C
NM_000489.4:c.4449T>C NP_000480.3:p.Ile1483=
NM_138270.3:c.4335T>C NP_612114.2:p.Ile1445=
XM_005262153.3:c.4446T>C XP_005262210.2:p.Ile1482=
XM_005262154.3:c.4362T>C XP_005262211.2:p.Ile1454=
XM_005262155.3:c.4332T>C XP_005262212.2:p.Ile1444=
XM_005262156.3:c.4284T>C XP_005262213.2:p.Ile1428=
XM_005262157.3:c.4245T>C XP_005262214.2:p.Ile1415=
XM_006724666.2:c.4332T>C XP_006724729.1:p.Ile1444=
XM_006724667.2:c.4170T>C XP_006724730.1:p.Ile1390=
XM_006724668.2:c.4449T>C XP_006724731.1:p.Ile1483=
XR_938400.1:n.4717T>C
NM_000489.5:c.4449T>C NP_000480.3:p.Ile1483=
XM_005262153.5:c.4446T>C XP_005262210.2:p.Ile1482=
XM_005262154.5:c.4362T>C XP_005262211.2:p.Ile1454=
XM_005262155.4:c.4332T>C XP_005262212.2:p.Ile1444=
XM_005262156.4:c.4284T>C XP_005262213.2:p.Ile1428=
XM_005262157.5:c.4245T>C XP_005262214.2:p.Ile1415=
XM_006724666.4:c.4332T>C XP_006724729.1:p.Ile1444=
XM_006724667.3:c.4170T>C XP_006724730.1:p.Ile1390=
XM_006724668.3:c.4449T>C XP_006724731.1:p.Ile1483=
XM_017029601.2:c.4359T>C XP_016885090.1:p.Ile1453=
XM_017029602.1:c.4329T>C XP_016885091.1:p.Ile1443=
XM_017029603.1:c.4281T>C XP_016885092.1:p.Ile1427=
XM_017029604.2:c.4248T>C XP_016885093.1:p.Ile1416=
XM_017029605.1:c.4245T>C XP_016885094.1:p.Ile1415=
XM_017029606.2:c.4218T>C XP_016885095.1:p.Ile1406=
XM_017029607.2:c.4215T>C XP_016885096.1:p.Ile1405=
XM_017029608.2:c.4167T>C XP_016885097.1:p.Ile1389=
XM_017029609.1:c.4131T>C XP_016885098.1:p.Ile1377=
XM_017029610.1:c.4128T>C XP_016885099.1:p.Ile1376=
XM_017029611.1:c.4083T>C XP_016885100.1:p.Ile1361=
XR_001755700.2:n.4674T>C
NM_138270.4:c.4335T>C NP_612114.2:p.Ile1445=
NM_000489.6:c.4449T>C MANE Select NP_000480.3:p.Ile1483=
NM_138270.5:c.4335T>C NP_612114.2:p.Ile1445=