Canonical Allele Identifier: CA2573159532
Community Standard Title: NM_000489.6(ATRX):c.5273-10T>A
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77618991A>T , CM000685.2:g.77618991A>T GRCh38
NC_000023.10:g.76874459A>T , CM000685.1:g.76874459A>T GRCh37
NC_000023.9:g.76761115A>T NCBI36
NG_008838.2:g.172231T>A
NG_008838.3:g.172279T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.5273-10T>A MANE Select NP_000480.3:n.5273-10T>A
ENST00000373344.11:c.5273-10T>A MANE Select ENSP00000362441.4:n.5273-10T>A
NM_000489.4:c.5273-10T>A NP_000480.3:n.5273-10T>A
NM_000489.5:c.5273-10T>A NP_000480.3:n.5273-10T>A
NM_138270.3:c.5159-10T>A NP_612114.2:n.5159-10T>A
NM_138270.4:c.5159-10T>A NP_612114.2:n.5159-10T>A
NM_138270.5:c.5159-10T>A NP_612114.2:n.5159-10T>A
ENST00000373344.9:c.5273-10T>A ENSP00000362441.4:n.5273-10T>A
ENST00000395603.7:c.5159-10T>A ENSP00000378967.3:n.5159-10T>A
ENST00000400866.4:c.254-10T>A ENSP00000383663.3:n.254-10T>A
ENST00000480283.5:c.*4901-10T>A ENSP00000480196.1:n.*4901-10T>A
ENST00000675732.1:c.371-10T>A ENSP00000502598.1:n.371-10T>A
ENST00000675908.1:n.1008-10T>A
XM_005262153.3:c.5270-10T>A XP_005262210.2:n.5270-10T>A
XM_005262153.5:c.5270-10T>A XP_005262210.2:n.5270-10T>A
XM_005262154.3:c.5186-10T>A XP_005262211.2:n.5186-10T>A
XM_005262154.5:c.5186-10T>A XP_005262211.2:n.5186-10T>A
XM_005262155.3:c.5156-10T>A XP_005262212.2:n.5156-10T>A
XM_005262155.4:c.5156-10T>A XP_005262212.2:n.5156-10T>A
XM_005262156.3:c.5108-10T>A XP_005262213.2:n.5108-10T>A
XM_005262156.4:c.5108-10T>A XP_005262213.2:n.5108-10T>A
XM_005262157.3:c.5069-10T>A XP_005262214.2:n.5069-10T>A
XM_005262157.5:c.5069-10T>A XP_005262214.2:n.5069-10T>A
XM_006724666.2:c.5156-10T>A XP_006724729.1:n.5156-10T>A
XM_006724666.4:c.5156-10T>A XP_006724729.1:n.5156-10T>A
XM_006724667.2:c.4994-10T>A XP_006724730.1:n.4994-10T>A
XM_006724667.3:c.4994-10T>A XP_006724730.1:n.4994-10T>A
XM_006724668.2:c.5273-10T>A XP_006724731.1:n.5273-10T>A
XM_006724668.3:c.5273-10T>A XP_006724731.1:n.5273-10T>A
XM_017029601.2:c.5183-10T>A XP_016885090.1:n.5183-10T>A
XM_017029602.1:c.5153-10T>A XP_016885091.1:n.5153-10T>A
XM_017029603.1:c.5105-10T>A XP_016885092.1:n.5105-10T>A
XM_017029604.2:c.5072-10T>A XP_016885093.1:n.5072-10T>A
XM_017029605.1:c.5069-10T>A XP_016885094.1:n.5069-10T>A
XM_017029606.2:c.5042-10T>A XP_016885095.1:n.5042-10T>A
XM_017029607.2:c.5039-10T>A XP_016885096.1:n.5039-10T>A
XM_017029608.2:c.4991-10T>A XP_016885097.1:n.4991-10T>A
XM_017029609.1:c.4955-10T>A XP_016885098.1:n.4955-10T>A
XM_017029610.1:c.4952-10T>A XP_016885099.1:n.4952-10T>A
XM_017029611.1:c.4907-10T>A XP_016885100.1:n.4907-10T>A
XR_001755700.2:n.5498-10T>A
XR_938400.1:n.5541-10T>A