Canonical Allele Identifier: CA16043297
Gene: ATRX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372813
ClinVar RCV Id: RCV000413791
dbSNP Id: rs1057517997

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652162T>A , CM000685.2:g.77652162T>A GRCh38
NC_000023.10:g.76907652T>A , CM000685.1:g.76907652T>A GRCh37
NC_000023.9:g.76794308T>A NCBI36
NG_008838.2:g.139060A>T
NG_008838.3:g.139108A>T

Transcript Alleles

HGVS Amino-acid change
NM_000489.4:c.4509A>T VV NP_000480.3:p.Arg1503Ser
NM_138270.3:c.4395A>T VV NP_612114.2:p.Arg1465Ser
XM_005262153.3:c.4506A>T XP_005262210.2:p.Arg1502Ser
XM_005262154.3:c.4422A>T XP_005262211.2:p.Arg1474Ser
XM_005262155.3:c.4392A>T XP_005262212.2:p.Arg1464Ser
XM_005262156.3:c.4344A>T XP_005262213.2:p.Arg1448Ser
XM_005262157.3:c.4305A>T XP_005262214.2:p.Arg1435Ser
XM_006724666.2:c.4392A>T XP_006724729.1:p.Arg1464Ser
XM_006724667.2:c.4230A>T XP_006724730.1:p.Arg1410Ser
XM_006724668.2:c.4509A>T XP_006724731.1:p.Arg1503Ser
XR_938400.1:n.4777A>T
NM_000489.5:c.4509A>T VV
XM_005262153.5:c.4506A>T
XM_005262154.5:c.4422A>T
XM_005262155.4:c.4392A>T
XM_005262156.4:c.4344A>T
XM_005262157.5:c.4305A>T
XM_006724666.4:c.4392A>T
XM_006724667.3:c.4230A>T
XM_006724668.3:c.4509A>T
XM_017029601.2:c.4419A>T XP_016885090.1:p.Arg1473Ser
XM_017029602.1:c.4389A>T XP_016885091.1:p.Arg1463Ser
XM_017029603.1:c.4341A>T XP_016885092.1:p.Arg1447Ser
XM_017029604.2:c.4308A>T XP_016885093.1:p.Arg1436Ser
XM_017029605.1:c.4305A>T XP_016885094.1:p.Arg1435Ser
XM_017029606.2:c.4278A>T XP_016885095.1:p.Arg1426Ser
XM_017029607.2:c.4275A>T XP_016885096.1:p.Arg1425Ser
XM_017029608.2:c.4227A>T XP_016885097.1:p.Arg1409Ser
XM_017029609.1:c.4191A>T XP_016885098.1:p.Arg1397Ser
XM_017029610.1:c.4188A>T XP_016885099.1:p.Arg1396Ser
XM_017029611.1:c.4143A>T XP_016885100.1:p.Arg1381Ser
XR_001755700.2:n.4734A>T
ENST00000373344.9:c.4509A>T ENSP00000362441.4:p.Arg1503Ser
ENST00000395603.7:c.4395A>T ENSP00000378967.3:p.Arg1465Ser
ENST00000480283.5:c.*4137A>T ENSP00000480196.1:p.=
ENST00000623242.3:n.115A>T