Canonical Allele Identifier: CA10457834
Community Standard Title: NM_000489.6(ATRX):c.4214+19A>T
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77656541T>A , CM000685.2:g.77656541T>A GRCh38
NC_000023.10:g.76912031T>A , CM000685.1:g.76912031T>A GRCh37
NC_000023.9:g.76798687T>A NCBI36
NG_008838.2:g.134681A>T
NG_008838.3:g.134729A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.4214+19A>T MANE Select NP_000480.3:n.4214+19A>T
ENST00000373344.11:c.4214+19A>T MANE Select ENSP00000362441.4:n.4214+19A>T
NM_000489.4:c.4214+19A>T NP_000480.3:n.4214+19A>T
NM_000489.5:c.4214+19A>T NP_000480.3:n.4214+19A>T
NM_138270.3:c.4100+19A>T NP_612114.2:n.4100+19A>T
NM_138270.4:c.4100+19A>T NP_612114.2:n.4100+19A>T
NM_138270.5:c.4100+19A>T NP_612114.2:n.4100+19A>T
ENST00000373344.9:c.4214+19A>T ENSP00000362441.4:n.4214+19A>T
ENST00000395603.7:c.4100+19A>T ENSP00000378967.3:n.4100+19A>T
ENST00000480283.5:c.*3842+19A>T ENSP00000480196.1:n.*3842+19A>T
ENST00000624166.3:c.4010+19A>T ENSP00000485103.1:n.4010+19A>T
XM_005262153.3:c.4211+19A>T XP_005262210.2:n.4211+19A>T
XM_005262153.5:c.4211+19A>T XP_005262210.2:n.4211+19A>T
XM_005262154.3:c.4127+19A>T XP_005262211.2:n.4127+19A>T
XM_005262154.5:c.4127+19A>T XP_005262211.2:n.4127+19A>T
XM_005262155.3:c.4097+19A>T XP_005262212.2:n.4097+19A>T
XM_005262155.4:c.4097+19A>T XP_005262212.2:n.4097+19A>T
XM_005262156.3:c.4049+19A>T XP_005262213.2:n.4049+19A>T
XM_005262156.4:c.4049+19A>T XP_005262213.2:n.4049+19A>T
XM_005262157.3:c.4010+19A>T XP_005262214.2:n.4010+19A>T
XM_005262157.5:c.4010+19A>T XP_005262214.2:n.4010+19A>T
XM_006724666.2:c.4097+19A>T XP_006724729.1:n.4097+19A>T
XM_006724666.4:c.4097+19A>T XP_006724729.1:n.4097+19A>T
XM_006724667.2:c.3935+19A>T XP_006724730.1:n.3935+19A>T
XM_006724667.3:c.3935+19A>T XP_006724730.1:n.3935+19A>T
XM_006724668.2:c.4214+19A>T XP_006724731.1:n.4214+19A>T
XM_006724668.3:c.4214+19A>T XP_006724731.1:n.4214+19A>T
XM_017029601.2:c.4124+19A>T XP_016885090.1:n.4124+19A>T
XM_017029602.1:c.4094+19A>T XP_016885091.1:n.4094+19A>T
XM_017029603.1:c.4046+19A>T XP_016885092.1:n.4046+19A>T
XM_017029604.2:c.4013+19A>T XP_016885093.1:n.4013+19A>T
XM_017029605.1:c.4010+19A>T XP_016885094.1:n.4010+19A>T
XM_017029606.2:c.3983+19A>T XP_016885095.1:n.3983+19A>T
XM_017029607.2:c.3980+19A>T XP_016885096.1:n.3980+19A>T
XM_017029608.2:c.3932+19A>T XP_016885097.1:n.3932+19A>T
XM_017029609.1:c.3896+19A>T XP_016885098.1:n.3896+19A>T
XM_017029610.1:c.3893+19A>T XP_016885099.1:n.3893+19A>T
XM_017029611.1:c.3848+19A>T XP_016885100.1:n.3848+19A>T
XR_001755700.2:n.4439+19A>T
XR_938400.1:n.4482+19A>T