Canonical Allele Identifier: CA413704778
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77633697G>A , CM000685.2:g.77633697G>A GRCh38
NC_000023.10:g.76889185G>A , CM000685.1:g.76889185G>A GRCh37
NC_000023.9:g.76775841G>A NCBI36
NG_008838.2:g.157525C>T
NG_008838.3:g.157573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4825C>T MANE Select ENSP00000362441.4:p.His1609Tyr
ENST00000675732.1:c.-78C>T ENSP00000502598.1:n.-78C>T
ENST00000675908.1:n.560C>T
ENST00000373344.9:c.4825C>T ENSP00000362441.4:p.His1609Tyr
ENST00000395603.7:c.4711C>T ENSP00000378967.3:p.His1571Tyr
ENST00000480283.5:c.*4453C>T ENSP00000480196.1:n.*4453C>T
ENST00000623242.3:c.562C>T
ENST00000624403.1:n.169C>T
NM_000489.4:c.4825C>T NP_000480.3:p.His1609Tyr
NM_138270.3:c.4711C>T NP_612114.2:p.His1571Tyr
XM_005262153.3:c.4822C>T XP_005262210.2:p.His1608Tyr
XM_005262154.3:c.4738C>T XP_005262211.2:p.His1580Tyr
XM_005262155.3:c.4708C>T XP_005262212.2:p.His1570Tyr
XM_005262156.3:c.4660C>T XP_005262213.2:p.His1554Tyr
XM_005262157.3:c.4621C>T XP_005262214.2:p.His1541Tyr
XM_006724666.2:c.4708C>T XP_006724729.1:p.His1570Tyr
XM_006724667.2:c.4546C>T XP_006724730.1:p.His1516Tyr
XM_006724668.2:c.4825C>T XP_006724731.1:p.His1609Tyr
XR_938400.1:n.5093C>T
NM_000489.5:c.4825C>T NP_000480.3:p.His1609Tyr
XM_005262153.5:c.4822C>T XP_005262210.2:p.His1608Tyr
XM_005262154.5:c.4738C>T XP_005262211.2:p.His1580Tyr
XM_005262155.4:c.4708C>T XP_005262212.2:p.His1570Tyr
XM_005262156.4:c.4660C>T XP_005262213.2:p.His1554Tyr
XM_005262157.5:c.4621C>T XP_005262214.2:p.His1541Tyr
XM_006724666.4:c.4708C>T XP_006724729.1:p.His1570Tyr
XM_006724667.3:c.4546C>T XP_006724730.1:p.His1516Tyr
XM_006724668.3:c.4825C>T XP_006724731.1:p.His1609Tyr
XM_017029601.2:c.4735C>T XP_016885090.1:p.His1579Tyr
XM_017029602.1:c.4705C>T XP_016885091.1:p.His1569Tyr
XM_017029603.1:c.4657C>T XP_016885092.1:p.His1553Tyr
XM_017029604.2:c.4624C>T XP_016885093.1:p.His1542Tyr
XM_017029605.1:c.4621C>T XP_016885094.1:p.His1541Tyr
XM_017029606.2:c.4594C>T XP_016885095.1:p.His1532Tyr
XM_017029607.2:c.4591C>T XP_016885096.1:p.His1531Tyr
XM_017029608.2:c.4543C>T XP_016885097.1:p.His1515Tyr
XM_017029609.1:c.4507C>T XP_016885098.1:p.His1503Tyr
XM_017029610.1:c.4504C>T XP_016885099.1:p.His1502Tyr
XM_017029611.1:c.4459C>T XP_016885100.1:p.His1487Tyr
XR_001755700.2:n.5050C>T
NM_138270.4:c.4711C>T NP_612114.2:p.His1571Tyr
NM_000489.6:c.4825C>T MANE Select NP_000480.3:p.His1609Tyr
NM_138270.5:c.4711C>T NP_612114.2:p.His1571Tyr