Canonical Allele Identifier: CA413704036
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508454A>T , CM000685.2:g.77508454A>T GRCh38
NC_000023.10:g.76763932A>T , CM000685.1:g.76763932A>T GRCh37
NC_000023.9:g.76650588A>T NCBI36
NG_008838.2:g.282768T>A
NG_008838.3:g.282816T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7376T>A MANE Select ENSP00000362441.4:p.Met2459Lys
ENST00000675732.1:c.2474T>A ENSP00000502598.1:p.Met825Lys
ENST00000373344.9:c.7376T>A ENSP00000362441.4:p.Met2459Lys
ENST00000395603.7:c.7262T>A ENSP00000378967.3:p.Met2421Lys
ENST00000480283.5:c.*7004T>A ENSP00000480196.1:n.*7004T>A
ENST00000623706.3:n.5696T>A
NM_000489.4:c.7376T>A NP_000480.3:p.Met2459Lys
NM_138270.3:c.7262T>A NP_612114.2:p.Met2421Lys
XM_005262153.3:c.7373T>A XP_005262210.2:p.Met2458Lys
XM_005262154.3:c.7289T>A XP_005262211.2:p.Met2430Lys
XM_005262155.3:c.7259T>A XP_005262212.2:p.Met2420Lys
XM_005262156.3:c.7211T>A XP_005262213.2:p.Met2404Lys
XM_005262157.3:c.7172T>A XP_005262214.2:p.Met2391Lys
XM_006724666.2:c.7259T>A XP_006724729.1:p.Met2420Lys
XM_006724667.2:c.7097T>A XP_006724730.1:p.Met2366Lys
XR_938400.1:n.8968T>A
NM_000489.5:c.7376T>A NP_000480.3:p.Met2459Lys
XM_005262153.5:c.7373T>A XP_005262210.2:p.Met2458Lys
XM_005262154.5:c.7289T>A XP_005262211.2:p.Met2430Lys
XM_005262155.4:c.7259T>A XP_005262212.2:p.Met2420Lys
XM_005262156.4:c.7211T>A XP_005262213.2:p.Met2404Lys
XM_005262157.5:c.7172T>A XP_005262214.2:p.Met2391Lys
XM_006724666.4:c.7259T>A XP_006724729.1:p.Met2420Lys
XM_006724667.3:c.7097T>A XP_006724730.1:p.Met2366Lys
XM_017029601.2:c.7286T>A XP_016885090.1:p.Met2429Lys
XM_017029602.1:c.7256T>A XP_016885091.1:p.Met2419Lys
XM_017029603.1:c.7208T>A XP_016885092.1:p.Met2403Lys
XM_017029604.2:c.7175T>A XP_016885093.1:p.Met2392Lys
XM_017029605.1:c.7172T>A XP_016885094.1:p.Met2391Lys
XM_017029606.2:c.7145T>A XP_016885095.1:p.Met2382Lys
XM_017029607.2:c.7142T>A XP_016885096.1:p.Met2381Lys
XM_017029608.2:c.7094T>A XP_016885097.1:p.Met2365Lys
XM_017029609.1:c.7058T>A XP_016885098.1:p.Met2353Lys
XM_017029610.1:c.7055T>A XP_016885099.1:p.Met2352Lys
XM_017029611.1:c.7010T>A XP_016885100.1:p.Met2337Lys
XR_001755700.2:n.7675T>A
NM_138270.4:c.7262T>A NP_612114.2:p.Met2421Lys
NM_000489.6:c.7376T>A MANE Select NP_000480.3:p.Met2459Lys
NM_138270.5:c.7262T>A NP_612114.2:p.Met2421Lys