Canonical Allele Identifier: CA413703465
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508373G>T , CM000685.2:g.77508373G>T GRCh38
NC_000023.10:g.76763851G>T , CM000685.1:g.76763851G>T GRCh37
NC_000023.9:g.76650507G>T NCBI36
NG_008838.2:g.282849C>A
NG_008838.3:g.282897C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7457C>A MANE Select ENSP00000362441.4:p.Pro2486His
ENST00000675732.1:c.2555C>A ENSP00000502598.1:p.Pro852His
ENST00000373344.9:c.7457C>A ENSP00000362441.4:p.Pro2486His
ENST00000395603.7:c.7343C>A ENSP00000378967.3:p.Pro2448His
ENST00000480283.5:c.*7085C>A ENSP00000480196.1:n.*7085C>A
ENST00000623706.3:n.5777C>A
NM_000489.4:c.7457C>A NP_000480.3:p.Pro2486His
NM_138270.3:c.7343C>A NP_612114.2:p.Pro2448His
XM_005262153.3:c.7454C>A XP_005262210.2:p.Pro2485His
XM_005262154.3:c.7370C>A XP_005262211.2:p.Pro2457His
XM_005262155.3:c.7340C>A XP_005262212.2:p.Pro2447His
XM_005262156.3:c.7292C>A XP_005262213.2:p.Pro2431His
XM_005262157.3:c.7253C>A XP_005262214.2:p.Pro2418His
XM_006724666.2:c.7340C>A XP_006724729.1:p.Pro2447His
XM_006724667.2:c.7178C>A XP_006724730.1:p.Pro2393His
XR_938400.1:n.9049C>A
NM_000489.5:c.7457C>A NP_000480.3:p.Pro2486His
XM_005262153.5:c.7454C>A XP_005262210.2:p.Pro2485His
XM_005262154.5:c.7370C>A XP_005262211.2:p.Pro2457His
XM_005262155.4:c.7340C>A XP_005262212.2:p.Pro2447His
XM_005262156.4:c.7292C>A XP_005262213.2:p.Pro2431His
XM_005262157.5:c.7253C>A XP_005262214.2:p.Pro2418His
XM_006724666.4:c.7340C>A XP_006724729.1:p.Pro2447His
XM_006724667.3:c.7178C>A XP_006724730.1:p.Pro2393His
XM_017029601.2:c.7367C>A XP_016885090.1:p.Pro2456His
XM_017029602.1:c.7337C>A XP_016885091.1:p.Pro2446His
XM_017029603.1:c.7289C>A XP_016885092.1:p.Pro2430His
XM_017029604.2:c.7256C>A XP_016885093.1:p.Pro2419His
XM_017029605.1:c.7253C>A XP_016885094.1:p.Pro2418His
XM_017029606.2:c.7226C>A XP_016885095.1:p.Pro2409His
XM_017029607.2:c.7223C>A XP_016885096.1:p.Pro2408His
XM_017029608.2:c.7175C>A XP_016885097.1:p.Pro2392His
XM_017029609.1:c.7139C>A XP_016885098.1:p.Pro2380His
XM_017029610.1:c.7136C>A XP_016885099.1:p.Pro2379His
XM_017029611.1:c.7091C>A XP_016885100.1:p.Pro2364His
XR_001755700.2:n.7756C>A
NM_138270.4:c.7343C>A NP_612114.2:p.Pro2448His
NM_000489.6:c.7457C>A MANE Select NP_000480.3:p.Pro2486His
NM_138270.5:c.7343C>A NP_612114.2:p.Pro2448His