Canonical Allele Identifier: CA413709013
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652349T>C , CM000685.2:g.77652349T>C GRCh38
NC_000023.10:g.76907839T>C , CM000685.1:g.76907839T>C GRCh37
NC_000023.9:g.76794495T>C NCBI36
NG_008838.2:g.138873A>G
NG_008838.3:g.138921A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4322A>G MANE Select ENSP00000362441.4:p.Asn1441Ser
ENST00000373344.9:c.4322A>G ENSP00000362441.4:p.Asn1441Ser
ENST00000395603.7:c.4208A>G ENSP00000378967.3:p.Asn1403Ser
ENST00000480283.5:c.*3950A>G ENSP00000480196.1:n.*3950A>G
NM_000489.4:c.4322A>G NP_000480.3:p.Asn1441Ser
NM_138270.3:c.4208A>G NP_612114.2:p.Asn1403Ser
XM_005262153.3:c.4319A>G XP_005262210.2:p.Asn1440Ser
XM_005262154.3:c.4235A>G XP_005262211.2:p.Asn1412Ser
XM_005262155.3:c.4205A>G XP_005262212.2:p.Asn1402Ser
XM_005262156.3:c.4157A>G XP_005262213.2:p.Asn1386Ser
XM_005262157.3:c.4118A>G XP_005262214.2:p.Asn1373Ser
XM_006724666.2:c.4205A>G XP_006724729.1:p.Asn1402Ser
XM_006724667.2:c.4043A>G XP_006724730.1:p.Asn1348Ser
XM_006724668.2:c.4322A>G XP_006724731.1:p.Asn1441Ser
XR_938400.1:n.4590A>G
NM_000489.5:c.4322A>G NP_000480.3:p.Asn1441Ser
XM_005262153.5:c.4319A>G XP_005262210.2:p.Asn1440Ser
XM_005262154.5:c.4235A>G XP_005262211.2:p.Asn1412Ser
XM_005262155.4:c.4205A>G XP_005262212.2:p.Asn1402Ser
XM_005262156.4:c.4157A>G XP_005262213.2:p.Asn1386Ser
XM_005262157.5:c.4118A>G XP_005262214.2:p.Asn1373Ser
XM_006724666.4:c.4205A>G XP_006724729.1:p.Asn1402Ser
XM_006724667.3:c.4043A>G XP_006724730.1:p.Asn1348Ser
XM_006724668.3:c.4322A>G XP_006724731.1:p.Asn1441Ser
XM_017029601.2:c.4232A>G XP_016885090.1:p.Asn1411Ser
XM_017029602.1:c.4202A>G XP_016885091.1:p.Asn1401Ser
XM_017029603.1:c.4154A>G XP_016885092.1:p.Asn1385Ser
XM_017029604.2:c.4121A>G XP_016885093.1:p.Asn1374Ser
XM_017029605.1:c.4118A>G XP_016885094.1:p.Asn1373Ser
XM_017029606.2:c.4091A>G XP_016885095.1:p.Asn1364Ser
XM_017029607.2:c.4088A>G XP_016885096.1:p.Asn1363Ser
XM_017029608.2:c.4040A>G XP_016885097.1:p.Asn1347Ser
XM_017029609.1:c.4004A>G XP_016885098.1:p.Asn1335Ser
XM_017029610.1:c.4001A>G XP_016885099.1:p.Asn1334Ser
XM_017029611.1:c.3956A>G XP_016885100.1:p.Asn1319Ser
XR_001755700.2:n.4547A>G
NM_138270.4:c.4208A>G NP_612114.2:p.Asn1403Ser
NM_000489.6:c.4322A>G MANE Select NP_000480.3:p.Asn1441Ser
NM_138270.5:c.4208A>G NP_612114.2:p.Asn1403Ser