Canonical Allele Identifier: CA413704828
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508555T>A , CM000685.2:g.77508555T>A GRCh38
NC_000023.10:g.76764033T>A , CM000685.1:g.76764033T>A GRCh37
NC_000023.9:g.76650689T>A NCBI36
NG_008838.2:g.282667A>T
NG_008838.3:g.282715A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7275A>T MANE Select ENSP00000362441.4:p.Gln2425His
ENST00000675732.1:c.2373A>T ENSP00000502598.1:p.Gln791His
ENST00000373344.9:c.7275A>T ENSP00000362441.4:p.Gln2425His
ENST00000395603.7:c.7161A>T ENSP00000378967.3:p.Gln2387His
ENST00000480283.5:c.*6903A>T ENSP00000480196.1:n.*6903A>T
ENST00000623706.3:n.5595A>T
ENST00000624766.1:n.506A>T
NM_000489.4:c.7275A>T NP_000480.3:p.Gln2425His
NM_138270.3:c.7161A>T NP_612114.2:p.Gln2387His
XM_005262153.3:c.7272A>T XP_005262210.2:p.Gln2424His
XM_005262154.3:c.7188A>T XP_005262211.2:p.Gln2396His
XM_005262155.3:c.7158A>T XP_005262212.2:p.Gln2386His
XM_005262156.3:c.7110A>T XP_005262213.2:p.Gln2370His
XM_005262157.3:c.7071A>T XP_005262214.2:p.Gln2357His
XM_006724666.2:c.7158A>T XP_006724729.1:p.Gln2386His
XM_006724667.2:c.6996A>T XP_006724730.1:p.Gln2332His
XR_938400.1:n.8867A>T
NM_000489.5:c.7275A>T NP_000480.3:p.Gln2425His
XM_005262153.5:c.7272A>T XP_005262210.2:p.Gln2424His
XM_005262154.5:c.7188A>T XP_005262211.2:p.Gln2396His
XM_005262155.4:c.7158A>T XP_005262212.2:p.Gln2386His
XM_005262156.4:c.7110A>T XP_005262213.2:p.Gln2370His
XM_005262157.5:c.7071A>T XP_005262214.2:p.Gln2357His
XM_006724666.4:c.7158A>T XP_006724729.1:p.Gln2386His
XM_006724667.3:c.6996A>T XP_006724730.1:p.Gln2332His
XM_017029601.2:c.7185A>T XP_016885090.1:p.Gln2395His
XM_017029602.1:c.7155A>T XP_016885091.1:p.Gln2385His
XM_017029603.1:c.7107A>T XP_016885092.1:p.Gln2369His
XM_017029604.2:c.7074A>T XP_016885093.1:p.Gln2358His
XM_017029605.1:c.7071A>T XP_016885094.1:p.Gln2357His
XM_017029606.2:c.7044A>T XP_016885095.1:p.Gln2348His
XM_017029607.2:c.7041A>T XP_016885096.1:p.Gln2347His
XM_017029608.2:c.6993A>T XP_016885097.1:p.Gln2331His
XM_017029609.1:c.6957A>T XP_016885098.1:p.Gln2319His
XM_017029610.1:c.6954A>T XP_016885099.1:p.Gln2318His
XM_017029611.1:c.6909A>T XP_016885100.1:p.Gln2303His
XR_001755700.2:n.7574A>T
NM_138270.4:c.7161A>T NP_612114.2:p.Gln2387His
NM_000489.6:c.7275A>T MANE Select NP_000480.3:p.Gln2425His
NM_138270.5:c.7161A>T NP_612114.2:p.Gln2387His