Canonical Allele Identifier: CA413708069
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652188T>G , CM000685.2:g.77652188T>G GRCh38
NC_000023.10:g.76907678T>G , CM000685.1:g.76907678T>G GRCh37
NC_000023.9:g.76794334T>G NCBI36
NG_008838.2:g.139034A>C
NG_008838.3:g.139082A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4483A>C MANE Select ENSP00000362441.4:p.Asn1495His
ENST00000373344.9:c.4483A>C ENSP00000362441.4:p.Asn1495His
ENST00000395603.7:c.4369A>C ENSP00000378967.3:p.Asn1457His
ENST00000480283.5:c.*4111A>C ENSP00000480196.1:n.*4111A>C
ENST00000623242.3:c.89A>C
NM_000489.4:c.4483A>C NP_000480.3:p.Asn1495His
NM_138270.3:c.4369A>C NP_612114.2:p.Asn1457His
XM_005262153.3:c.4480A>C XP_005262210.2:p.Asn1494His
XM_005262154.3:c.4396A>C XP_005262211.2:p.Asn1466His
XM_005262155.3:c.4366A>C XP_005262212.2:p.Asn1456His
XM_005262156.3:c.4318A>C XP_005262213.2:p.Asn1440His
XM_005262157.3:c.4279A>C XP_005262214.2:p.Asn1427His
XM_006724666.2:c.4366A>C XP_006724729.1:p.Asn1456His
XM_006724667.2:c.4204A>C XP_006724730.1:p.Asn1402His
XM_006724668.2:c.4483A>C XP_006724731.1:p.Asn1495His
XR_938400.1:n.4751A>C
NM_000489.5:c.4483A>C NP_000480.3:p.Asn1495His
XM_005262153.5:c.4480A>C XP_005262210.2:p.Asn1494His
XM_005262154.5:c.4396A>C XP_005262211.2:p.Asn1466His
XM_005262155.4:c.4366A>C XP_005262212.2:p.Asn1456His
XM_005262156.4:c.4318A>C XP_005262213.2:p.Asn1440His
XM_005262157.5:c.4279A>C XP_005262214.2:p.Asn1427His
XM_006724666.4:c.4366A>C XP_006724729.1:p.Asn1456His
XM_006724667.3:c.4204A>C XP_006724730.1:p.Asn1402His
XM_006724668.3:c.4483A>C XP_006724731.1:p.Asn1495His
XM_017029601.2:c.4393A>C XP_016885090.1:p.Asn1465His
XM_017029602.1:c.4363A>C XP_016885091.1:p.Asn1455His
XM_017029603.1:c.4315A>C XP_016885092.1:p.Asn1439His
XM_017029604.2:c.4282A>C XP_016885093.1:p.Asn1428His
XM_017029605.1:c.4279A>C XP_016885094.1:p.Asn1427His
XM_017029606.2:c.4252A>C XP_016885095.1:p.Asn1418His
XM_017029607.2:c.4249A>C XP_016885096.1:p.Asn1417His
XM_017029608.2:c.4201A>C XP_016885097.1:p.Asn1401His
XM_017029609.1:c.4165A>C XP_016885098.1:p.Asn1389His
XM_017029610.1:c.4162A>C XP_016885099.1:p.Asn1388His
XM_017029611.1:c.4117A>C XP_016885100.1:p.Asn1373His
XR_001755700.2:n.4708A>C
NM_138270.4:c.4369A>C NP_612114.2:p.Asn1457His
NM_000489.6:c.4483A>C MANE Select NP_000480.3:p.Asn1495His
NM_138270.5:c.4369A>C NP_612114.2:p.Asn1457His