Canonical Allele Identifier: CA413707357
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77520888G>C , CM000685.2:g.77520888G>C GRCh38
NC_000023.10:g.76776366G>C , CM000685.1:g.76776366G>C GRCh37
NC_000023.9:g.76663022G>C NCBI36
NG_008838.2:g.270334C>G
NG_008838.3:g.270382C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7100C>G MANE Select ENSP00000362441.4:p.Ala2367Gly
ENST00000675732.1:c.2198C>G ENSP00000502598.1:p.Ala733Gly
ENST00000373344.9:c.7100C>G ENSP00000362441.4:p.Ala2367Gly
ENST00000395603.7:c.6986C>G ENSP00000378967.3:p.Ala2329Gly
ENST00000480283.5:c.*6728C>G ENSP00000480196.1:n.*6728C>G
ENST00000623706.3:n.5420C>G
ENST00000624766.1:n.331C>G
NM_000489.4:c.7100C>G NP_000480.3:p.Ala2367Gly
NM_138270.3:c.6986C>G NP_612114.2:p.Ala2329Gly
XM_005262153.3:c.7097C>G XP_005262210.2:p.Ala2366Gly
XM_005262154.3:c.7013C>G XP_005262211.2:p.Ala2338Gly
XM_005262155.3:c.6983C>G XP_005262212.2:p.Ala2328Gly
XM_005262156.3:c.6935C>G XP_005262213.2:p.Ala2312Gly
XM_005262157.3:c.6896C>G XP_005262214.2:p.Ala2299Gly
XM_006724666.2:c.6983C>G XP_006724729.1:p.Ala2328Gly
XM_006724667.2:c.6821C>G XP_006724730.1:p.Ala2274Gly
XR_938400.1:n.8692C>G
NM_000489.5:c.7100C>G NP_000480.3:p.Ala2367Gly
XM_005262153.5:c.7097C>G XP_005262210.2:p.Ala2366Gly
XM_005262154.5:c.7013C>G XP_005262211.2:p.Ala2338Gly
XM_005262155.4:c.6983C>G XP_005262212.2:p.Ala2328Gly
XM_005262156.4:c.6935C>G XP_005262213.2:p.Ala2312Gly
XM_005262157.5:c.6896C>G XP_005262214.2:p.Ala2299Gly
XM_006724666.4:c.6983C>G XP_006724729.1:p.Ala2328Gly
XM_006724667.3:c.6821C>G XP_006724730.1:p.Ala2274Gly
XM_017029601.2:c.7010C>G XP_016885090.1:p.Ala2337Gly
XM_017029602.1:c.6980C>G XP_016885091.1:p.Ala2327Gly
XM_017029603.1:c.6932C>G XP_016885092.1:p.Ala2311Gly
XM_017029604.2:c.6899C>G XP_016885093.1:p.Ala2300Gly
XM_017029605.1:c.6896C>G XP_016885094.1:p.Ala2299Gly
XM_017029606.2:c.6869C>G XP_016885095.1:p.Ala2290Gly
XM_017029607.2:c.6866C>G XP_016885096.1:p.Ala2289Gly
XM_017029608.2:c.6818C>G XP_016885097.1:p.Ala2273Gly
XM_017029609.1:c.6782C>G XP_016885098.1:p.Ala2261Gly
XM_017029610.1:c.6779C>G XP_016885099.1:p.Ala2260Gly
XM_017029611.1:c.6734C>G XP_016885100.1:p.Ala2245Gly
XR_001755700.2:n.7399C>G
NM_138270.4:c.6986C>G NP_612114.2:p.Ala2329Gly
NM_000489.6:c.7100C>G MANE Select NP_000480.3:p.Ala2367Gly
NM_138270.5:c.6986C>G NP_612114.2:p.Ala2329Gly