Canonical Allele Identifier: CA413708548
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652276A>T , CM000685.2:g.77652276A>T GRCh38
NC_000023.10:g.76907766A>T , CM000685.1:g.76907766A>T GRCh37
NC_000023.9:g.76794422A>T NCBI36
NG_008838.2:g.138946T>A
NG_008838.3:g.138994T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4395T>A MANE Select ENSP00000362441.4:p.Asp1465Glu
ENST00000373344.9:c.4395T>A ENSP00000362441.4:p.Asp1465Glu
ENST00000395603.7:c.4281T>A ENSP00000378967.3:p.Asp1427Glu
ENST00000480283.5:c.*4023T>A ENSP00000480196.1:n.*4023T>A
ENST00000623242.3:c.1T>A
NM_000489.4:c.4395T>A NP_000480.3:p.Asp1465Glu
NM_138270.3:c.4281T>A NP_612114.2:p.Asp1427Glu
XM_005262153.3:c.4392T>A XP_005262210.2:p.Asp1464Glu
XM_005262154.3:c.4308T>A XP_005262211.2:p.Asp1436Glu
XM_005262155.3:c.4278T>A XP_005262212.2:p.Asp1426Glu
XM_005262156.3:c.4230T>A XP_005262213.2:p.Asp1410Glu
XM_005262157.3:c.4191T>A XP_005262214.2:p.Asp1397Glu
XM_006724666.2:c.4278T>A XP_006724729.1:p.Asp1426Glu
XM_006724667.2:c.4116T>A XP_006724730.1:p.Asp1372Glu
XM_006724668.2:c.4395T>A XP_006724731.1:p.Asp1465Glu
XR_938400.1:n.4663T>A
NM_000489.5:c.4395T>A NP_000480.3:p.Asp1465Glu
XM_005262153.5:c.4392T>A XP_005262210.2:p.Asp1464Glu
XM_005262154.5:c.4308T>A XP_005262211.2:p.Asp1436Glu
XM_005262155.4:c.4278T>A XP_005262212.2:p.Asp1426Glu
XM_005262156.4:c.4230T>A XP_005262213.2:p.Asp1410Glu
XM_005262157.5:c.4191T>A XP_005262214.2:p.Asp1397Glu
XM_006724666.4:c.4278T>A XP_006724729.1:p.Asp1426Glu
XM_006724667.3:c.4116T>A XP_006724730.1:p.Asp1372Glu
XM_006724668.3:c.4395T>A XP_006724731.1:p.Asp1465Glu
XM_017029601.2:c.4305T>A XP_016885090.1:p.Asp1435Glu
XM_017029602.1:c.4275T>A XP_016885091.1:p.Asp1425Glu
XM_017029603.1:c.4227T>A XP_016885092.1:p.Asp1409Glu
XM_017029604.2:c.4194T>A XP_016885093.1:p.Asp1398Glu
XM_017029605.1:c.4191T>A XP_016885094.1:p.Asp1397Glu
XM_017029606.2:c.4164T>A XP_016885095.1:p.Asp1388Glu
XM_017029607.2:c.4161T>A XP_016885096.1:p.Asp1387Glu
XM_017029608.2:c.4113T>A XP_016885097.1:p.Asp1371Glu
XM_017029609.1:c.4077T>A XP_016885098.1:p.Asp1359Glu
XM_017029610.1:c.4074T>A XP_016885099.1:p.Asp1358Glu
XM_017029611.1:c.4029T>A XP_016885100.1:p.Asp1343Glu
XR_001755700.2:n.4620T>A
NM_138270.4:c.4281T>A NP_612114.2:p.Asp1427Glu
NM_000489.6:c.4395T>A MANE Select NP_000480.3:p.Asp1465Glu
NM_138270.5:c.4281T>A NP_612114.2:p.Asp1427Glu