Canonical Allele Identifier: CA517373981
Gene: ATRX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.76763859A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508381A>G , CM000685.2:g.77508381A>G GRCh38
NC_000023.10:g.76763859A>G , CM000685.1:g.76763859A>G GRCh37
NC_000023.9:g.76650515A>G NCBI36
NG_008838.2:g.282841T>C
NG_008838.3:g.282889T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7449T>C MANE Select ENSP00000362441.4:p.Asn2483=
ENST00000675732.1:c.2547T>C ENSP00000502598.1:p.Asn849=
ENST00000373344.9:c.7449T>C ENSP00000362441.4:p.Asn2483=
ENST00000395603.7:c.7335T>C ENSP00000378967.3:p.Asn2445=
ENST00000480283.5:c.*7077T>C ENSP00000480196.1:n.*7077T>C
ENST00000623706.3:n.5769T>C
NM_000489.4:c.7449T>C NP_000480.3:p.Asn2483=
NM_138270.3:c.7335T>C NP_612114.2:p.Asn2445=
XM_005262153.3:c.7446T>C XP_005262210.2:p.Asn2482=
XM_005262154.3:c.7362T>C XP_005262211.2:p.Asn2454=
XM_005262155.3:c.7332T>C XP_005262212.2:p.Asn2444=
XM_005262156.3:c.7284T>C XP_005262213.2:p.Asn2428=
XM_005262157.3:c.7245T>C XP_005262214.2:p.Asn2415=
XM_006724666.2:c.7332T>C XP_006724729.1:p.Asn2444=
XM_006724667.2:c.7170T>C XP_006724730.1:p.Asn2390=
XR_938400.1:n.9041T>C
NM_000489.5:c.7449T>C NP_000480.3:p.Asn2483=
XM_005262153.5:c.7446T>C XP_005262210.2:p.Asn2482=
XM_005262154.5:c.7362T>C XP_005262211.2:p.Asn2454=
XM_005262155.4:c.7332T>C XP_005262212.2:p.Asn2444=
XM_005262156.4:c.7284T>C XP_005262213.2:p.Asn2428=
XM_005262157.5:c.7245T>C XP_005262214.2:p.Asn2415=
XM_006724666.4:c.7332T>C XP_006724729.1:p.Asn2444=
XM_006724667.3:c.7170T>C XP_006724730.1:p.Asn2390=
XM_017029601.2:c.7359T>C XP_016885090.1:p.Asn2453=
XM_017029602.1:c.7329T>C XP_016885091.1:p.Asn2443=
XM_017029603.1:c.7281T>C XP_016885092.1:p.Asn2427=
XM_017029604.2:c.7248T>C XP_016885093.1:p.Asn2416=
XM_017029605.1:c.7245T>C XP_016885094.1:p.Asn2415=
XM_017029606.2:c.7218T>C XP_016885095.1:p.Asn2406=
XM_017029607.2:c.7215T>C XP_016885096.1:p.Asn2405=
XM_017029608.2:c.7167T>C XP_016885097.1:p.Asn2389=
XM_017029609.1:c.7131T>C XP_016885098.1:p.Asn2377=
XM_017029610.1:c.7128T>C XP_016885099.1:p.Asn2376=
XM_017029611.1:c.7083T>C XP_016885100.1:p.Asn2361=
XR_001755700.2:n.7748T>C
NM_138270.4:c.7335T>C NP_612114.2:p.Asn2445=
NM_000489.6:c.7449T>C MANE Select NP_000480.3:p.Asn2483=
NM_138270.5:c.7335T>C NP_612114.2:p.Asn2445=