Canonical Allele Identifier: CA413722510
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77688852T>C , CM000685.2:g.77688852T>C GRCh38
NC_000023.10:g.76944345T>C , CM000685.1:g.76944345T>C GRCh37
NC_000023.9:g.76831001T>C NCBI36
NG_008838.2:g.102370A>G
NG_008838.3:g.102418A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.560A>G MANE Select ENSP00000362441.4:p.Tyr187Cys
ENST00000373344.9:c.560A>G ENSP00000362441.4:p.Tyr187Cys
ENST00000395603.7:c.446A>G ENSP00000378967.3:p.Tyr149Cys
ENST00000480283.5:c.*188A>G ENSP00000480196.1:n.*188A>G
ENST00000623321.3:c.395A>G ENSP00000485127.1:p.Tyr132Cys
ENST00000624032.3:c.560A>G ENSP00000485253.1:p.Tyr187Cys
ENST00000624166.3:c.443A>G ENSP00000485103.1:p.Tyr148Cys
ENST00000624668.3:c.281A>G ENSP00000485100.1:p.Tyr94Cys
ENST00000625063.3:c.375A>G
NM_000489.4:c.560A>G NP_000480.3:p.Tyr187Cys
NM_138270.3:c.446A>G NP_612114.2:p.Tyr149Cys
XM_005262153.3:c.557A>G XP_005262210.2:p.Tyr186Cys
XM_005262154.3:c.560A>G XP_005262211.2:p.Tyr187Cys
XM_005262155.3:c.443A>G XP_005262212.2:p.Tyr148Cys
XM_005262156.3:c.395A>G XP_005262213.2:p.Tyr132Cys
XM_005262157.3:c.443A>G XP_005262214.2:p.Tyr148Cys
XM_006724666.2:c.443A>G XP_006724729.1:p.Tyr148Cys
XM_006724667.2:c.281A>G XP_006724730.1:p.Tyr94Cys
XM_006724668.2:c.560A>G XP_006724731.1:p.Tyr187Cys
XR_938400.1:n.828A>G
NM_000489.5:c.560A>G NP_000480.3:p.Tyr187Cys
XM_005262153.5:c.557A>G XP_005262210.2:p.Tyr186Cys
XM_005262154.5:c.560A>G XP_005262211.2:p.Tyr187Cys
XM_005262155.4:c.443A>G XP_005262212.2:p.Tyr148Cys
XM_005262156.4:c.395A>G XP_005262213.2:p.Tyr132Cys
XM_005262157.5:c.443A>G XP_005262214.2:p.Tyr148Cys
XM_006724666.4:c.443A>G XP_006724729.1:p.Tyr148Cys
XM_006724667.3:c.281A>G XP_006724730.1:p.Tyr94Cys
XM_006724668.3:c.560A>G XP_006724731.1:p.Tyr187Cys
XM_017029601.2:c.557A>G XP_016885090.1:p.Tyr186Cys
XM_017029602.1:c.440A>G XP_016885091.1:p.Tyr147Cys
XM_017029603.1:c.392A>G XP_016885092.1:p.Tyr131Cys
XM_017029604.2:c.446A>G XP_016885093.1:p.Tyr149Cys
XM_017029605.1:c.443A>G XP_016885094.1:p.Tyr148Cys
XM_017029606.2:c.329A>G XP_016885095.1:p.Tyr110Cys
XM_017029607.2:c.326A>G XP_016885096.1:p.Tyr109Cys
XM_017029608.2:c.278A>G XP_016885097.1:p.Tyr93Cys
XM_017029609.1:c.329A>G XP_016885098.1:p.Tyr110Cys
XM_017029610.1:c.326A>G XP_016885099.1:p.Tyr109Cys
XM_017029611.1:c.281A>G XP_016885100.1:p.Tyr94Cys
XR_001755700.2:n.785A>G
NM_138270.4:c.446A>G NP_612114.2:p.Tyr149Cys
NM_000489.6:c.560A>G MANE Select NP_000480.3:p.Tyr187Cys
NM_138270.5:c.446A>G NP_612114.2:p.Tyr149Cys