Canonical Allele Identifier: CA413708518
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652272T>A , CM000685.2:g.77652272T>A GRCh38
NC_000023.10:g.76907762T>A , CM000685.1:g.76907762T>A GRCh37
NC_000023.9:g.76794418T>A NCBI36
NG_008838.2:g.138950A>T
NG_008838.3:g.138998A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4399A>T MANE Select ENSP00000362441.4:p.Asn1467Tyr
ENST00000373344.9:c.4399A>T ENSP00000362441.4:p.Asn1467Tyr
ENST00000395603.7:c.4285A>T ENSP00000378967.3:p.Asn1429Tyr
ENST00000480283.5:c.*4027A>T ENSP00000480196.1:n.*4027A>T
ENST00000623242.3:c.5A>T
NM_000489.4:c.4399A>T NP_000480.3:p.Asn1467Tyr
NM_138270.3:c.4285A>T NP_612114.2:p.Asn1429Tyr
XM_005262153.3:c.4396A>T XP_005262210.2:p.Asn1466Tyr
XM_005262154.3:c.4312A>T XP_005262211.2:p.Asn1438Tyr
XM_005262155.3:c.4282A>T XP_005262212.2:p.Asn1428Tyr
XM_005262156.3:c.4234A>T XP_005262213.2:p.Asn1412Tyr
XM_005262157.3:c.4195A>T XP_005262214.2:p.Asn1399Tyr
XM_006724666.2:c.4282A>T XP_006724729.1:p.Asn1428Tyr
XM_006724667.2:c.4120A>T XP_006724730.1:p.Asn1374Tyr
XM_006724668.2:c.4399A>T XP_006724731.1:p.Asn1467Tyr
XR_938400.1:n.4667A>T
NM_000489.5:c.4399A>T NP_000480.3:p.Asn1467Tyr
XM_005262153.5:c.4396A>T XP_005262210.2:p.Asn1466Tyr
XM_005262154.5:c.4312A>T XP_005262211.2:p.Asn1438Tyr
XM_005262155.4:c.4282A>T XP_005262212.2:p.Asn1428Tyr
XM_005262156.4:c.4234A>T XP_005262213.2:p.Asn1412Tyr
XM_005262157.5:c.4195A>T XP_005262214.2:p.Asn1399Tyr
XM_006724666.4:c.4282A>T XP_006724729.1:p.Asn1428Tyr
XM_006724667.3:c.4120A>T XP_006724730.1:p.Asn1374Tyr
XM_006724668.3:c.4399A>T XP_006724731.1:p.Asn1467Tyr
XM_017029601.2:c.4309A>T XP_016885090.1:p.Asn1437Tyr
XM_017029602.1:c.4279A>T XP_016885091.1:p.Asn1427Tyr
XM_017029603.1:c.4231A>T XP_016885092.1:p.Asn1411Tyr
XM_017029604.2:c.4198A>T XP_016885093.1:p.Asn1400Tyr
XM_017029605.1:c.4195A>T XP_016885094.1:p.Asn1399Tyr
XM_017029606.2:c.4168A>T XP_016885095.1:p.Asn1390Tyr
XM_017029607.2:c.4165A>T XP_016885096.1:p.Asn1389Tyr
XM_017029608.2:c.4117A>T XP_016885097.1:p.Asn1373Tyr
XM_017029609.1:c.4081A>T XP_016885098.1:p.Asn1361Tyr
XM_017029610.1:c.4078A>T XP_016885099.1:p.Asn1360Tyr
XM_017029611.1:c.4033A>T XP_016885100.1:p.Asn1345Tyr
XR_001755700.2:n.4624A>T
NM_138270.4:c.4285A>T NP_612114.2:p.Asn1429Tyr
NM_000489.6:c.4399A>T MANE Select NP_000480.3:p.Asn1467Tyr
NM_138270.5:c.4285A>T NP_612114.2:p.Asn1429Tyr