Canonical Allele Identifier: CA413704750
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs2147650995

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508546A>T , CM000685.2:g.77508546A>T GRCh38
NC_000023.10:g.76764024A>T , CM000685.1:g.76764024A>T GRCh37
NC_000023.9:g.76650680A>T NCBI36
NG_008838.2:g.282676T>A
NG_008838.3:g.282724T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7284T>A MANE Select ENSP00000362441.4:p.Tyr2428Ter
ENST00000675732.1:c.2382T>A ENSP00000502598.1:p.Tyr794Ter
ENST00000373344.9:c.7284T>A ENSP00000362441.4:p.Tyr2428Ter
ENST00000395603.7:c.7170T>A ENSP00000378967.3:p.Tyr2390Ter
ENST00000480283.5:c.*6912T>A ENSP00000480196.1:n.*6912T>A
ENST00000623706.3:n.5604T>A
ENST00000624766.1:n.515T>A
NM_000489.4:c.7284T>A NP_000480.3:p.Tyr2428Ter
NM_138270.3:c.7170T>A NP_612114.2:p.Tyr2390Ter
XM_005262153.3:c.7281T>A XP_005262210.2:p.Tyr2427Ter
XM_005262154.3:c.7197T>A XP_005262211.2:p.Tyr2399Ter
XM_005262155.3:c.7167T>A XP_005262212.2:p.Tyr2389Ter
XM_005262156.3:c.7119T>A XP_005262213.2:p.Tyr2373Ter
XM_005262157.3:c.7080T>A XP_005262214.2:p.Tyr2360Ter
XM_006724666.2:c.7167T>A XP_006724729.1:p.Tyr2389Ter
XM_006724667.2:c.7005T>A XP_006724730.1:p.Tyr2335Ter
XR_938400.1:n.8876T>A
NM_000489.5:c.7284T>A NP_000480.3:p.Tyr2428Ter
XM_005262153.5:c.7281T>A XP_005262210.2:p.Tyr2427Ter
XM_005262154.5:c.7197T>A XP_005262211.2:p.Tyr2399Ter
XM_005262155.4:c.7167T>A XP_005262212.2:p.Tyr2389Ter
XM_005262156.4:c.7119T>A XP_005262213.2:p.Tyr2373Ter
XM_005262157.5:c.7080T>A XP_005262214.2:p.Tyr2360Ter
XM_006724666.4:c.7167T>A XP_006724729.1:p.Tyr2389Ter
XM_006724667.3:c.7005T>A XP_006724730.1:p.Tyr2335Ter
XM_017029601.2:c.7194T>A XP_016885090.1:p.Tyr2398Ter
XM_017029602.1:c.7164T>A XP_016885091.1:p.Tyr2388Ter
XM_017029603.1:c.7116T>A XP_016885092.1:p.Tyr2372Ter
XM_017029604.2:c.7083T>A XP_016885093.1:p.Tyr2361Ter
XM_017029605.1:c.7080T>A XP_016885094.1:p.Tyr2360Ter
XM_017029606.2:c.7053T>A XP_016885095.1:p.Tyr2351Ter
XM_017029607.2:c.7050T>A XP_016885096.1:p.Tyr2350Ter
XM_017029608.2:c.7002T>A XP_016885097.1:p.Tyr2334Ter
XM_017029609.1:c.6966T>A XP_016885098.1:p.Tyr2322Ter
XM_017029610.1:c.6963T>A XP_016885099.1:p.Tyr2321Ter
XM_017029611.1:c.6918T>A XP_016885100.1:p.Tyr2306Ter
XR_001755700.2:n.7583T>A
NM_138270.4:c.7170T>A NP_612114.2:p.Tyr2390Ter
NM_000489.6:c.7284T>A MANE Select NP_000480.3:p.Tyr2428Ter
NM_138270.5:c.7170T>A NP_612114.2:p.Tyr2390Ter