Canonical Allele Identifier: CA2738745269
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs2148434794

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652087A>T , CM000685.2:g.77652087A>T GRCh38
NC_000023.10:g.76907577A>T , CM000685.1:g.76907577A>T GRCh37
NC_000023.9:g.76794233A>T NCBI36
NG_008838.2:g.139135T>A
NG_008838.3:g.139183T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4557+27T>A MANE Select ENSP00000362441.4:n.4557+27T>A
ENST00000373344.9:c.4557+27T>A ENSP00000362441.4:n.4557+27T>A
ENST00000395603.7:c.4443+27T>A ENSP00000378967.3:n.4443+27T>A
ENST00000460639.2:n.37+27T>A
ENST00000480283.5:c.*4185+27T>A ENSP00000480196.1:n.*4185+27T>A
ENST00000623242.3:c.190T>A
NM_000489.4:c.4557+27T>A NP_000480.3:n.4557+27T>A
NM_138270.3:c.4443+27T>A NP_612114.2:n.4443+27T>A
XM_005262153.3:c.4554+27T>A XP_005262210.2:n.4554+27T>A
XM_005262154.3:c.4470+27T>A XP_005262211.2:n.4470+27T>A
XM_005262155.3:c.4440+27T>A XP_005262212.2:n.4440+27T>A
XM_005262156.3:c.4392+27T>A XP_005262213.2:n.4392+27T>A
XM_005262157.3:c.4353+27T>A XP_005262214.2:n.4353+27T>A
XM_006724666.2:c.4440+27T>A XP_006724729.1:n.4440+27T>A
XM_006724667.2:c.4278+27T>A XP_006724730.1:n.4278+27T>A
XM_006724668.2:c.4557+27T>A XP_006724731.1:n.4557+27T>A
XR_938400.1:n.4825+27T>A
NM_000489.5:c.4557+27T>A NP_000480.3:n.4557+27T>A
XM_005262153.5:c.4554+27T>A XP_005262210.2:n.4554+27T>A
XM_005262154.5:c.4470+27T>A XP_005262211.2:n.4470+27T>A
XM_005262155.4:c.4440+27T>A XP_005262212.2:n.4440+27T>A
XM_005262156.4:c.4392+27T>A XP_005262213.2:n.4392+27T>A
XM_005262157.5:c.4353+27T>A XP_005262214.2:n.4353+27T>A
XM_006724666.4:c.4440+27T>A XP_006724729.1:n.4440+27T>A
XM_006724667.3:c.4278+27T>A XP_006724730.1:n.4278+27T>A
XM_006724668.3:c.4557+27T>A XP_006724731.1:n.4557+27T>A
XM_017029601.2:c.4467+27T>A XP_016885090.1:n.4467+27T>A
XM_017029602.1:c.4437+27T>A XP_016885091.1:n.4437+27T>A
XM_017029603.1:c.4389+27T>A XP_016885092.1:n.4389+27T>A
XM_017029604.2:c.4356+27T>A XP_016885093.1:n.4356+27T>A
XM_017029605.1:c.4353+27T>A XP_016885094.1:n.4353+27T>A
XM_017029606.2:c.4326+27T>A XP_016885095.1:n.4326+27T>A
XM_017029607.2:c.4323+27T>A XP_016885096.1:n.4323+27T>A
XM_017029608.2:c.4275+27T>A XP_016885097.1:n.4275+27T>A
XM_017029609.1:c.4239+27T>A XP_016885098.1:n.4239+27T>A
XM_017029610.1:c.4236+27T>A XP_016885099.1:n.4236+27T>A
XM_017029611.1:c.4191+27T>A XP_016885100.1:n.4191+27T>A
XR_001755700.2:n.4782+27T>A
NM_138270.4:c.4443+27T>A NP_612114.2:n.4443+27T>A
NM_000489.6:c.4557+27T>A MANE Select NP_000480.3:n.4557+27T>A
NM_138270.5:c.4443+27T>A NP_612114.2:n.4443+27T>A