Canonical Allele Identifier: CA413701089
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574305T>C , CM000685.2:g.77574305T>C GRCh38
NC_000023.10:g.76829770T>C , CM000685.1:g.76829770T>C GRCh37
NC_000023.9:g.76716426T>C NCBI36
NG_008838.2:g.216917A>G
NG_008838.3:g.216965A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6271A>G MANE Select ENSP00000362441.4:p.Thr2091Ala
ENST00000675732.1:c.1369A>G ENSP00000502598.1:p.Thr457Ala
ENST00000373344.9:c.6271A>G ENSP00000362441.4:p.Thr2091Ala
ENST00000395603.7:c.6157A>G ENSP00000378967.3:p.Thr2053Ala
ENST00000480283.5:c.*5899A>G ENSP00000480196.1:n.*5899A>G
ENST00000623316.1:c.755A>G
ENST00000623706.3:n.3341A>G
NM_000489.4:c.6271A>G NP_000480.3:p.Thr2091Ala
NM_138270.3:c.6157A>G NP_612114.2:p.Thr2053Ala
XM_005262153.3:c.6268A>G XP_005262210.2:p.Thr2090Ala
XM_005262154.3:c.6184A>G XP_005262211.2:p.Thr2062Ala
XM_005262155.3:c.6154A>G XP_005262212.2:p.Thr2052Ala
XM_005262156.3:c.6106A>G XP_005262213.2:p.Thr2036Ala
XM_005262157.3:c.6067A>G XP_005262214.2:p.Thr2023Ala
XM_006724666.2:c.6154A>G XP_006724729.1:p.Thr2052Ala
XM_006724667.2:c.5992A>G XP_006724730.1:p.Thr1998Ala
XR_938400.1:n.6613A>G
NM_000489.5:c.6271A>G NP_000480.3:p.Thr2091Ala
XM_005262153.5:c.6268A>G XP_005262210.2:p.Thr2090Ala
XM_005262154.5:c.6184A>G XP_005262211.2:p.Thr2062Ala
XM_005262155.4:c.6154A>G XP_005262212.2:p.Thr2052Ala
XM_005262156.4:c.6106A>G XP_005262213.2:p.Thr2036Ala
XM_005262157.5:c.6067A>G XP_005262214.2:p.Thr2023Ala
XM_006724666.4:c.6154A>G XP_006724729.1:p.Thr2052Ala
XM_006724667.3:c.5992A>G XP_006724730.1:p.Thr1998Ala
XM_017029601.2:c.6181A>G XP_016885090.1:p.Thr2061Ala
XM_017029602.1:c.6151A>G XP_016885091.1:p.Thr2051Ala
XM_017029603.1:c.6103A>G XP_016885092.1:p.Thr2035Ala
XM_017029604.2:c.6070A>G XP_016885093.1:p.Thr2024Ala
XM_017029605.1:c.6067A>G XP_016885094.1:p.Thr2023Ala
XM_017029606.2:c.6040A>G XP_016885095.1:p.Thr2014Ala
XM_017029607.2:c.6037A>G XP_016885096.1:p.Thr2013Ala
XM_017029608.2:c.5989A>G XP_016885097.1:p.Thr1997Ala
XM_017029609.1:c.5953A>G XP_016885098.1:p.Thr1985Ala
XM_017029610.1:c.5950A>G XP_016885099.1:p.Thr1984Ala
XM_017029611.1:c.5905A>G XP_016885100.1:p.Thr1969Ala
XR_001755700.2:n.6570A>G
NM_138270.4:c.6157A>G NP_612114.2:p.Thr2053Ala
NM_000489.6:c.6271A>G MANE Select NP_000480.3:p.Thr2091Ala
NM_138270.5:c.6157A>G NP_612114.2:p.Thr2053Ala