Canonical Allele Identifier: CA10458209
Community Standard Title: NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77683890C>T , CM000685.2:g.77683890C>T GRCh38
NC_000023.10:g.76939382C>T , CM000685.1:g.76939382C>T GRCh37
NC_000023.9:g.76826038C>T NCBI36
NG_008838.2:g.107332G>A
NG_008838.3:g.107380G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.1366G>A MANE Select NP_000480.3:p.Asp456Asn
ENST00000373344.11:c.1366G>A MANE Select ENSP00000362441.4:p.Asp456Asn
NM_000489.4:c.1366G>A NP_000480.3:p.Asp456Asn
NM_000489.5:c.1366G>A NP_000480.3:p.Asp456Asn
NM_138270.3:c.1252G>A NP_612114.2:p.Asp418Asn
NM_138270.4:c.1252G>A NP_612114.2:p.Asp418Asn
NM_138270.5:c.1252G>A NP_612114.2:p.Asp418Asn
ENST00000373344.9:c.1366G>A ENSP00000362441.4:p.Asp456Asn
ENST00000395603.7:c.1252G>A ENSP00000378967.3:p.Asp418Asn
ENST00000480283.5:c.*994G>A ENSP00000480196.1:n.*994G>A
ENST00000623321.3:c.1201G>A ENSP00000485127.1:p.Asp401Asn
ENST00000624032.3:c.1366G>A ENSP00000485253.1:p.Asp456Asn
ENST00000624166.3:c.1249G>A ENSP00000485103.1:p.Asp417Asn
XM_005262153.3:c.1363G>A XP_005262210.2:p.Asp455Asn
XM_005262153.5:c.1363G>A XP_005262210.2:p.Asp455Asn
XM_005262154.3:c.1366G>A XP_005262211.2:p.Asp456Asn
XM_005262154.5:c.1366G>A XP_005262211.2:p.Asp456Asn
XM_005262155.3:c.1249G>A XP_005262212.2:p.Asp417Asn
XM_005262155.4:c.1249G>A XP_005262212.2:p.Asp417Asn
XM_005262156.3:c.1201G>A XP_005262213.2:p.Asp401Asn
XM_005262156.4:c.1201G>A XP_005262213.2:p.Asp401Asn
XM_005262157.3:c.1249G>A XP_005262214.2:p.Asp417Asn
XM_005262157.5:c.1249G>A XP_005262214.2:p.Asp417Asn
XM_006724666.2:c.1249G>A XP_006724729.1:p.Asp417Asn
XM_006724666.4:c.1249G>A XP_006724729.1:p.Asp417Asn
XM_006724667.2:c.1087G>A XP_006724730.1:p.Asp363Asn
XM_006724667.3:c.1087G>A XP_006724730.1:p.Asp363Asn
XM_006724668.2:c.1366G>A XP_006724731.1:p.Asp456Asn
XM_006724668.3:c.1366G>A XP_006724731.1:p.Asp456Asn
XM_017029601.2:c.1363G>A XP_016885090.1:p.Asp455Asn
XM_017029602.1:c.1246G>A XP_016885091.1:p.Asp416Asn
XM_017029603.1:c.1198G>A XP_016885092.1:p.Asp400Asn
XM_017029604.2:c.1252G>A XP_016885093.1:p.Asp418Asn
XM_017029605.1:c.1249G>A XP_016885094.1:p.Asp417Asn
XM_017029606.2:c.1135G>A XP_016885095.1:p.Asp379Asn
XM_017029607.2:c.1132G>A XP_016885096.1:p.Asp378Asn
XM_017029608.2:c.1084G>A XP_016885097.1:p.Asp362Asn
XM_017029609.1:c.1135G>A XP_016885098.1:p.Asp379Asn
XM_017029610.1:c.1132G>A XP_016885099.1:p.Asp378Asn
XM_017029611.1:c.1087G>A XP_016885100.1:p.Asp363Asn
XR_001755700.2:n.1591G>A
XR_938400.1:n.1634G>A