Canonical Allele Identifier: CA413709172
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77654097C>T , CM000685.2:g.77654097C>T GRCh38
NC_000023.10:g.76909587C>T , CM000685.1:g.76909587C>T GRCh37
NC_000023.9:g.76796243C>T NCBI36
NG_008838.2:g.137125G>A
NG_008838.3:g.137173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4317+1G>A MANE Select ENSP00000362441.4:n.4317+1G>A
ENST00000373344.9:c.4317+1G>A ENSP00000362441.4:n.4317+1G>A
ENST00000395603.7:c.4203+1G>A ENSP00000378967.3:n.4203+1G>A
ENST00000480283.5:c.*3945+1G>A ENSP00000480196.1:n.*3945+1G>A
NM_000489.4:c.4317+1G>A NP_000480.3:n.4317+1G>A
NM_138270.3:c.4203+1G>A NP_612114.2:n.4203+1G>A
XM_005262153.3:c.4314+1G>A XP_005262210.2:n.4314+1G>A
XM_005262154.3:c.4230+1G>A XP_005262211.2:n.4230+1G>A
XM_005262155.3:c.4200+1G>A XP_005262212.2:n.4200+1G>A
XM_005262156.3:c.4152+1G>A XP_005262213.2:n.4152+1G>A
XM_005262157.3:c.4113+1G>A XP_005262214.2:n.4113+1G>A
XM_006724666.2:c.4200+1G>A XP_006724729.1:n.4200+1G>A
XM_006724667.2:c.4038+1G>A XP_006724730.1:n.4038+1G>A
XM_006724668.2:c.4317+1G>A XP_006724731.1:n.4317+1G>A
XR_938400.1:n.4585+1G>A
NM_000489.5:c.4317+1G>A NP_000480.3:n.4317+1G>A
XM_005262153.5:c.4314+1G>A XP_005262210.2:n.4314+1G>A
XM_005262154.5:c.4230+1G>A XP_005262211.2:n.4230+1G>A
XM_005262155.4:c.4200+1G>A XP_005262212.2:n.4200+1G>A
XM_005262156.4:c.4152+1G>A XP_005262213.2:n.4152+1G>A
XM_005262157.5:c.4113+1G>A XP_005262214.2:n.4113+1G>A
XM_006724666.4:c.4200+1G>A XP_006724729.1:n.4200+1G>A
XM_006724667.3:c.4038+1G>A XP_006724730.1:n.4038+1G>A
XM_006724668.3:c.4317+1G>A XP_006724731.1:n.4317+1G>A
XM_017029601.2:c.4227+1G>A XP_016885090.1:n.4227+1G>A
XM_017029602.1:c.4197+1G>A XP_016885091.1:n.4197+1G>A
XM_017029603.1:c.4149+1G>A XP_016885092.1:n.4149+1G>A
XM_017029604.2:c.4116+1G>A XP_016885093.1:n.4116+1G>A
XM_017029605.1:c.4113+1G>A XP_016885094.1:n.4113+1G>A
XM_017029606.2:c.4086+1G>A XP_016885095.1:n.4086+1G>A
XM_017029607.2:c.4083+1G>A XP_016885096.1:n.4083+1G>A
XM_017029608.2:c.4035+1G>A XP_016885097.1:n.4035+1G>A
XM_017029609.1:c.3999+1G>A XP_016885098.1:n.3999+1G>A
XM_017029610.1:c.3996+1G>A XP_016885099.1:n.3996+1G>A
XM_017029611.1:c.3951+1G>A XP_016885100.1:n.3951+1G>A
XR_001755700.2:n.4542+1G>A
NM_138270.4:c.4203+1G>A NP_612114.2:n.4203+1G>A
NM_000489.6:c.4317+1G>A MANE Select NP_000480.3:n.4317+1G>A
NM_138270.5:c.4203+1G>A NP_612114.2:n.4203+1G>A