Canonical Allele Identifier: CA413703578
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508389T>C , CM000685.2:g.77508389T>C GRCh38
NC_000023.10:g.76763867T>C , CM000685.1:g.76763867T>C GRCh37
NC_000023.9:g.76650523T>C NCBI36
NG_008838.2:g.282833A>G
NG_008838.3:g.282881A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7441A>G MANE Select ENSP00000362441.4:p.Ser2481Gly
ENST00000675732.1:c.2539A>G ENSP00000502598.1:p.Ser847Gly
ENST00000373344.9:c.7441A>G ENSP00000362441.4:p.Ser2481Gly
ENST00000395603.7:c.7327A>G ENSP00000378967.3:p.Ser2443Gly
ENST00000480283.5:c.*7069A>G ENSP00000480196.1:n.*7069A>G
ENST00000623706.3:n.5761A>G
NM_000489.4:c.7441A>G NP_000480.3:p.Ser2481Gly
NM_138270.3:c.7327A>G NP_612114.2:p.Ser2443Gly
XM_005262153.3:c.7438A>G XP_005262210.2:p.Ser2480Gly
XM_005262154.3:c.7354A>G XP_005262211.2:p.Ser2452Gly
XM_005262155.3:c.7324A>G XP_005262212.2:p.Ser2442Gly
XM_005262156.3:c.7276A>G XP_005262213.2:p.Ser2426Gly
XM_005262157.3:c.7237A>G XP_005262214.2:p.Ser2413Gly
XM_006724666.2:c.7324A>G XP_006724729.1:p.Ser2442Gly
XM_006724667.2:c.7162A>G XP_006724730.1:p.Ser2388Gly
XR_938400.1:n.9033A>G
NM_000489.5:c.7441A>G NP_000480.3:p.Ser2481Gly
XM_005262153.5:c.7438A>G XP_005262210.2:p.Ser2480Gly
XM_005262154.5:c.7354A>G XP_005262211.2:p.Ser2452Gly
XM_005262155.4:c.7324A>G XP_005262212.2:p.Ser2442Gly
XM_005262156.4:c.7276A>G XP_005262213.2:p.Ser2426Gly
XM_005262157.5:c.7237A>G XP_005262214.2:p.Ser2413Gly
XM_006724666.4:c.7324A>G XP_006724729.1:p.Ser2442Gly
XM_006724667.3:c.7162A>G XP_006724730.1:p.Ser2388Gly
XM_017029601.2:c.7351A>G XP_016885090.1:p.Ser2451Gly
XM_017029602.1:c.7321A>G XP_016885091.1:p.Ser2441Gly
XM_017029603.1:c.7273A>G XP_016885092.1:p.Ser2425Gly
XM_017029604.2:c.7240A>G XP_016885093.1:p.Ser2414Gly
XM_017029605.1:c.7237A>G XP_016885094.1:p.Ser2413Gly
XM_017029606.2:c.7210A>G XP_016885095.1:p.Ser2404Gly
XM_017029607.2:c.7207A>G XP_016885096.1:p.Ser2403Gly
XM_017029608.2:c.7159A>G XP_016885097.1:p.Ser2387Gly
XM_017029609.1:c.7123A>G XP_016885098.1:p.Ser2375Gly
XM_017029610.1:c.7120A>G XP_016885099.1:p.Ser2374Gly
XM_017029611.1:c.7075A>G XP_016885100.1:p.Ser2359Gly
XR_001755700.2:n.7740A>G
NM_138270.4:c.7327A>G NP_612114.2:p.Ser2443Gly
NM_000489.6:c.7441A>G MANE Select NP_000480.3:p.Ser2481Gly
NM_138270.5:c.7327A>G NP_612114.2:p.Ser2443Gly