Canonical Allele Identifier: CA413722515
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77688854A>C , CM000685.2:g.77688854A>C GRCh38
NC_000023.10:g.76944347A>C , CM000685.1:g.76944347A>C GRCh37
NC_000023.9:g.76831003A>C NCBI36
NG_008838.2:g.102368T>G
NG_008838.3:g.102416T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.558T>G MANE Select ENSP00000362441.4:p.Ile186Met
ENST00000373344.9:c.558T>G ENSP00000362441.4:p.Ile186Met
ENST00000395603.7:c.444T>G ENSP00000378967.3:p.Ile148Met
ENST00000480283.5:c.*186T>G ENSP00000480196.1:n.*186T>G
ENST00000623321.3:c.393T>G ENSP00000485127.1:p.Ile131Met
ENST00000624032.3:c.558T>G ENSP00000485253.1:p.Ile186Met
ENST00000624166.3:c.441T>G ENSP00000485103.1:p.Ile147Met
ENST00000624668.3:c.279T>G ENSP00000485100.1:p.Ile93Met
ENST00000625063.3:c.373T>G
NM_000489.4:c.558T>G NP_000480.3:p.Ile186Met
NM_138270.3:c.444T>G NP_612114.2:p.Ile148Met
XM_005262153.3:c.555T>G XP_005262210.2:p.Ile185Met
XM_005262154.3:c.558T>G XP_005262211.2:p.Ile186Met
XM_005262155.3:c.441T>G XP_005262212.2:p.Ile147Met
XM_005262156.3:c.393T>G XP_005262213.2:p.Ile131Met
XM_005262157.3:c.441T>G XP_005262214.2:p.Ile147Met
XM_006724666.2:c.441T>G XP_006724729.1:p.Ile147Met
XM_006724667.2:c.279T>G XP_006724730.1:p.Ile93Met
XM_006724668.2:c.558T>G XP_006724731.1:p.Ile186Met
XR_938400.1:n.826T>G
NM_000489.5:c.558T>G NP_000480.3:p.Ile186Met
XM_005262153.5:c.555T>G XP_005262210.2:p.Ile185Met
XM_005262154.5:c.558T>G XP_005262211.2:p.Ile186Met
XM_005262155.4:c.441T>G XP_005262212.2:p.Ile147Met
XM_005262156.4:c.393T>G XP_005262213.2:p.Ile131Met
XM_005262157.5:c.441T>G XP_005262214.2:p.Ile147Met
XM_006724666.4:c.441T>G XP_006724729.1:p.Ile147Met
XM_006724667.3:c.279T>G XP_006724730.1:p.Ile93Met
XM_006724668.3:c.558T>G XP_006724731.1:p.Ile186Met
XM_017029601.2:c.555T>G XP_016885090.1:p.Ile185Met
XM_017029602.1:c.438T>G XP_016885091.1:p.Ile146Met
XM_017029603.1:c.390T>G XP_016885092.1:p.Ile130Met
XM_017029604.2:c.444T>G XP_016885093.1:p.Ile148Met
XM_017029605.1:c.441T>G XP_016885094.1:p.Ile147Met
XM_017029606.2:c.327T>G XP_016885095.1:p.Ile109Met
XM_017029607.2:c.324T>G XP_016885096.1:p.Ile108Met
XM_017029608.2:c.276T>G XP_016885097.1:p.Ile92Met
XM_017029609.1:c.327T>G XP_016885098.1:p.Ile109Met
XM_017029610.1:c.324T>G XP_016885099.1:p.Ile108Met
XM_017029611.1:c.279T>G XP_016885100.1:p.Ile93Met
XR_001755700.2:n.783T>G
NM_138270.4:c.444T>G NP_612114.2:p.Ile148Met
NM_000489.6:c.558T>G MANE Select NP_000480.3:p.Ile186Met
NM_138270.5:c.444T>G NP_612114.2:p.Ile148Met