Canonical Allele Identifier: CA413701264
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574346C>T , CM000685.2:g.77574346C>T GRCh38
NC_000023.10:g.76829811C>T , CM000685.1:g.76829811C>T GRCh37
NC_000023.9:g.76716467C>T NCBI36
NG_008838.2:g.216876G>A
NG_008838.3:g.216924G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6230G>A MANE Select ENSP00000362441.4:p.Trp2077Ter
ENST00000636152.1:n.65G>A
ENST00000675732.1:c.1328G>A ENSP00000502598.1:p.Trp443Ter
ENST00000373344.9:c.6230G>A ENSP00000362441.4:p.Trp2077Ter
ENST00000395603.7:c.6116G>A ENSP00000378967.3:p.Trp2039Ter
ENST00000480283.5:c.*5858G>A ENSP00000480196.1:n.*5858G>A
ENST00000623316.1:c.714G>A
ENST00000623706.3:n.3300G>A
NM_000489.4:c.6230G>A NP_000480.3:p.Trp2077Ter
NM_138270.3:c.6116G>A NP_612114.2:p.Trp2039Ter
XM_005262153.3:c.6227G>A XP_005262210.2:p.Trp2076Ter
XM_005262154.3:c.6143G>A XP_005262211.2:p.Trp2048Ter
XM_005262155.3:c.6113G>A XP_005262212.2:p.Trp2038Ter
XM_005262156.3:c.6065G>A XP_005262213.2:p.Trp2022Ter
XM_005262157.3:c.6026G>A XP_005262214.2:p.Trp2009Ter
XM_006724666.2:c.6113G>A XP_006724729.1:p.Trp2038Ter
XM_006724667.2:c.5951G>A XP_006724730.1:p.Trp1984Ter
XR_938400.1:n.6572G>A
NM_000489.5:c.6230G>A NP_000480.3:p.Trp2077Ter
XM_005262153.5:c.6227G>A XP_005262210.2:p.Trp2076Ter
XM_005262154.5:c.6143G>A XP_005262211.2:p.Trp2048Ter
XM_005262155.4:c.6113G>A XP_005262212.2:p.Trp2038Ter
XM_005262156.4:c.6065G>A XP_005262213.2:p.Trp2022Ter
XM_005262157.5:c.6026G>A XP_005262214.2:p.Trp2009Ter
XM_006724666.4:c.6113G>A XP_006724729.1:p.Trp2038Ter
XM_006724667.3:c.5951G>A XP_006724730.1:p.Trp1984Ter
XM_017029601.2:c.6140G>A XP_016885090.1:p.Trp2047Ter
XM_017029602.1:c.6110G>A XP_016885091.1:p.Trp2037Ter
XM_017029603.1:c.6062G>A XP_016885092.1:p.Trp2021Ter
XM_017029604.2:c.6029G>A XP_016885093.1:p.Trp2010Ter
XM_017029605.1:c.6026G>A XP_016885094.1:p.Trp2009Ter
XM_017029606.2:c.5999G>A XP_016885095.1:p.Trp2000Ter
XM_017029607.2:c.5996G>A XP_016885096.1:p.Trp1999Ter
XM_017029608.2:c.5948G>A XP_016885097.1:p.Trp1983Ter
XM_017029609.1:c.5912G>A XP_016885098.1:p.Trp1971Ter
XM_017029610.1:c.5909G>A XP_016885099.1:p.Trp1970Ter
XM_017029611.1:c.5864G>A XP_016885100.1:p.Trp1955Ter
XR_001755700.2:n.6529G>A
NM_138270.4:c.6116G>A NP_612114.2:p.Trp2039Ter
NM_000489.6:c.6230G>A MANE Select NP_000480.3:p.Trp2077Ter
NM_138270.5:c.6116G>A NP_612114.2:p.Trp2039Ter