Canonical Allele Identifier: CA413701261
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574345C>G , CM000685.2:g.77574345C>G GRCh38
NC_000023.10:g.76829810C>G , CM000685.1:g.76829810C>G GRCh37
NC_000023.9:g.76716466C>G NCBI36
NG_008838.2:g.216877G>C
NG_008838.3:g.216925G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6231G>C MANE Select ENSP00000362441.4:p.Trp2077Cys
ENST00000636152.1:n.66G>C
ENST00000675732.1:c.1329G>C ENSP00000502598.1:p.Trp443Cys
ENST00000373344.9:c.6231G>C ENSP00000362441.4:p.Trp2077Cys
ENST00000395603.7:c.6117G>C ENSP00000378967.3:p.Trp2039Cys
ENST00000480283.5:c.*5859G>C ENSP00000480196.1:n.*5859G>C
ENST00000623316.1:c.715G>C
ENST00000623706.3:n.3301G>C
NM_000489.4:c.6231G>C NP_000480.3:p.Trp2077Cys
NM_138270.3:c.6117G>C NP_612114.2:p.Trp2039Cys
XM_005262153.3:c.6228G>C XP_005262210.2:p.Trp2076Cys
XM_005262154.3:c.6144G>C XP_005262211.2:p.Trp2048Cys
XM_005262155.3:c.6114G>C XP_005262212.2:p.Trp2038Cys
XM_005262156.3:c.6066G>C XP_005262213.2:p.Trp2022Cys
XM_005262157.3:c.6027G>C XP_005262214.2:p.Trp2009Cys
XM_006724666.2:c.6114G>C XP_006724729.1:p.Trp2038Cys
XM_006724667.2:c.5952G>C XP_006724730.1:p.Trp1984Cys
XR_938400.1:n.6573G>C
NM_000489.5:c.6231G>C NP_000480.3:p.Trp2077Cys
XM_005262153.5:c.6228G>C XP_005262210.2:p.Trp2076Cys
XM_005262154.5:c.6144G>C XP_005262211.2:p.Trp2048Cys
XM_005262155.4:c.6114G>C XP_005262212.2:p.Trp2038Cys
XM_005262156.4:c.6066G>C XP_005262213.2:p.Trp2022Cys
XM_005262157.5:c.6027G>C XP_005262214.2:p.Trp2009Cys
XM_006724666.4:c.6114G>C XP_006724729.1:p.Trp2038Cys
XM_006724667.3:c.5952G>C XP_006724730.1:p.Trp1984Cys
XM_017029601.2:c.6141G>C XP_016885090.1:p.Trp2047Cys
XM_017029602.1:c.6111G>C XP_016885091.1:p.Trp2037Cys
XM_017029603.1:c.6063G>C XP_016885092.1:p.Trp2021Cys
XM_017029604.2:c.6030G>C XP_016885093.1:p.Trp2010Cys
XM_017029605.1:c.6027G>C XP_016885094.1:p.Trp2009Cys
XM_017029606.2:c.6000G>C XP_016885095.1:p.Trp2000Cys
XM_017029607.2:c.5997G>C XP_016885096.1:p.Trp1999Cys
XM_017029608.2:c.5949G>C XP_016885097.1:p.Trp1983Cys
XM_017029609.1:c.5913G>C XP_016885098.1:p.Trp1971Cys
XM_017029610.1:c.5910G>C XP_016885099.1:p.Trp1970Cys
XM_017029611.1:c.5865G>C XP_016885100.1:p.Trp1955Cys
XR_001755700.2:n.6530G>C
NM_138270.4:c.6117G>C NP_612114.2:p.Trp2039Cys
NM_000489.6:c.6231G>C MANE Select NP_000480.3:p.Trp2077Cys
NM_138270.5:c.6117G>C NP_612114.2:p.Trp2039Cys