Canonical Allele Identifier: CA413707310
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77520876G>C , CM000685.2:g.77520876G>C GRCh38
NC_000023.10:g.76776354G>C , CM000685.1:g.76776354G>C GRCh37
NC_000023.9:g.76663010G>C NCBI36
NG_008838.2:g.270346C>G
NG_008838.3:g.270394C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7112C>G MANE Select ENSP00000362441.4:p.Ala2371Gly
ENST00000675732.1:c.2210C>G ENSP00000502598.1:p.Ala737Gly
ENST00000373344.9:c.7112C>G ENSP00000362441.4:p.Ala2371Gly
ENST00000395603.7:c.6998C>G ENSP00000378967.3:p.Ala2333Gly
ENST00000480283.5:c.*6740C>G ENSP00000480196.1:n.*6740C>G
ENST00000623706.3:n.5432C>G
ENST00000624766.1:n.343C>G
NM_000489.4:c.7112C>G NP_000480.3:p.Ala2371Gly
NM_138270.3:c.6998C>G NP_612114.2:p.Ala2333Gly
XM_005262153.3:c.7109C>G XP_005262210.2:p.Ala2370Gly
XM_005262154.3:c.7025C>G XP_005262211.2:p.Ala2342Gly
XM_005262155.3:c.6995C>G XP_005262212.2:p.Ala2332Gly
XM_005262156.3:c.6947C>G XP_005262213.2:p.Ala2316Gly
XM_005262157.3:c.6908C>G XP_005262214.2:p.Ala2303Gly
XM_006724666.2:c.6995C>G XP_006724729.1:p.Ala2332Gly
XM_006724667.2:c.6833C>G XP_006724730.1:p.Ala2278Gly
XR_938400.1:n.8704C>G
NM_000489.5:c.7112C>G NP_000480.3:p.Ala2371Gly
XM_005262153.5:c.7109C>G XP_005262210.2:p.Ala2370Gly
XM_005262154.5:c.7025C>G XP_005262211.2:p.Ala2342Gly
XM_005262155.4:c.6995C>G XP_005262212.2:p.Ala2332Gly
XM_005262156.4:c.6947C>G XP_005262213.2:p.Ala2316Gly
XM_005262157.5:c.6908C>G XP_005262214.2:p.Ala2303Gly
XM_006724666.4:c.6995C>G XP_006724729.1:p.Ala2332Gly
XM_006724667.3:c.6833C>G XP_006724730.1:p.Ala2278Gly
XM_017029601.2:c.7022C>G XP_016885090.1:p.Ala2341Gly
XM_017029602.1:c.6992C>G XP_016885091.1:p.Ala2331Gly
XM_017029603.1:c.6944C>G XP_016885092.1:p.Ala2315Gly
XM_017029604.2:c.6911C>G XP_016885093.1:p.Ala2304Gly
XM_017029605.1:c.6908C>G XP_016885094.1:p.Ala2303Gly
XM_017029606.2:c.6881C>G XP_016885095.1:p.Ala2294Gly
XM_017029607.2:c.6878C>G XP_016885096.1:p.Ala2293Gly
XM_017029608.2:c.6830C>G XP_016885097.1:p.Ala2277Gly
XM_017029609.1:c.6794C>G XP_016885098.1:p.Ala2265Gly
XM_017029610.1:c.6791C>G XP_016885099.1:p.Ala2264Gly
XM_017029611.1:c.6746C>G XP_016885100.1:p.Ala2249Gly
XR_001755700.2:n.7411C>G
NM_138270.4:c.6998C>G NP_612114.2:p.Ala2333Gly
NM_000489.6:c.7112C>G MANE Select NP_000480.3:p.Ala2371Gly
NM_138270.5:c.6998C>G NP_612114.2:p.Ala2333Gly