Canonical Allele Identifier: CA517374182
Gene: ATRX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.76764051A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508573A>G , CM000685.2:g.77508573A>G GRCh38
NC_000023.10:g.76764051A>G , CM000685.1:g.76764051A>G GRCh37
NC_000023.9:g.76650707A>G NCBI36
NG_008838.2:g.282649T>C
NG_008838.3:g.282697T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7257T>C MANE Select ENSP00000362441.4:p.Asn2419=
ENST00000675732.1:c.2355T>C ENSP00000502598.1:p.Asn785=
ENST00000373344.9:c.7257T>C ENSP00000362441.4:p.Asn2419=
ENST00000395603.7:c.7143T>C ENSP00000378967.3:p.Asn2381=
ENST00000480283.5:c.*6885T>C ENSP00000480196.1:n.*6885T>C
ENST00000623706.3:n.5577T>C
ENST00000624766.1:n.488T>C
NM_000489.4:c.7257T>C NP_000480.3:p.Asn2419=
NM_138270.3:c.7143T>C NP_612114.2:p.Asn2381=
XM_005262153.3:c.7254T>C XP_005262210.2:p.Asn2418=
XM_005262154.3:c.7170T>C XP_005262211.2:p.Asn2390=
XM_005262155.3:c.7140T>C XP_005262212.2:p.Asn2380=
XM_005262156.3:c.7092T>C XP_005262213.2:p.Asn2364=
XM_005262157.3:c.7053T>C XP_005262214.2:p.Asn2351=
XM_006724666.2:c.7140T>C XP_006724729.1:p.Asn2380=
XM_006724667.2:c.6978T>C XP_006724730.1:p.Asn2326=
XR_938400.1:n.8849T>C
NM_000489.5:c.7257T>C NP_000480.3:p.Asn2419=
XM_005262153.5:c.7254T>C XP_005262210.2:p.Asn2418=
XM_005262154.5:c.7170T>C XP_005262211.2:p.Asn2390=
XM_005262155.4:c.7140T>C XP_005262212.2:p.Asn2380=
XM_005262156.4:c.7092T>C XP_005262213.2:p.Asn2364=
XM_005262157.5:c.7053T>C XP_005262214.2:p.Asn2351=
XM_006724666.4:c.7140T>C XP_006724729.1:p.Asn2380=
XM_006724667.3:c.6978T>C XP_006724730.1:p.Asn2326=
XM_017029601.2:c.7167T>C XP_016885090.1:p.Asn2389=
XM_017029602.1:c.7137T>C XP_016885091.1:p.Asn2379=
XM_017029603.1:c.7089T>C XP_016885092.1:p.Asn2363=
XM_017029604.2:c.7056T>C XP_016885093.1:p.Asn2352=
XM_017029605.1:c.7053T>C XP_016885094.1:p.Asn2351=
XM_017029606.2:c.7026T>C XP_016885095.1:p.Asn2342=
XM_017029607.2:c.7023T>C XP_016885096.1:p.Asn2341=
XM_017029608.2:c.6975T>C XP_016885097.1:p.Asn2325=
XM_017029609.1:c.6939T>C XP_016885098.1:p.Asn2313=
XM_017029610.1:c.6936T>C XP_016885099.1:p.Asn2312=
XM_017029611.1:c.6891T>C XP_016885100.1:p.Asn2297=
XR_001755700.2:n.7556T>C
NM_138270.4:c.7143T>C NP_612114.2:p.Asn2381=
NM_000489.6:c.7257T>C MANE Select NP_000480.3:p.Asn2419=
NM_138270.5:c.7143T>C NP_612114.2:p.Asn2381=