Canonical Allele Identifier: CA413707053

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681991T>C , CM000685.2:g.77681991T>C	GRCh38
NC_000023.10:g.76937483T>C , CM000685.1:g.76937483T>C	GRCh37
NC_000023.9:g.76824139T>C	NCBI36
NG_008838.2:g.109231A>G
NG_008838.3:g.109279A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3265A>G MANE Select	NP_000480.3:p.Arg1089Gly
ENST00000373344.11:c.3265A>G MANE Select	ENSP00000362441.4:p.Arg1089Gly
NM_000489.4:c.3265A>G	NP_000480.3:p.Arg1089Gly
NM_000489.5:c.3265A>G	NP_000480.3:p.Arg1089Gly
NM_138270.3:c.3151A>G	NP_612114.2:p.Arg1051Gly
NM_138270.4:c.3151A>G	NP_612114.2:p.Arg1051Gly
NM_138270.5:c.3151A>G	NP_612114.2:p.Arg1051Gly
ENST00000373344.9:c.3265A>G	ENSP00000362441.4:p.Arg1089Gly
ENST00000395603.7:c.3151A>G	ENSP00000378967.3:p.Arg1051Gly
ENST00000480283.5:c.*2893A>G	ENSP00000480196.1:n.*2893A>G
ENST00000493470.2:c.151A>G	ENSP00000485408.1:p.Arg51Gly
ENST00000624166.3:c.3061A>G	ENSP00000485103.1:p.Arg1021Gly
XM_005262153.3:c.3262A>G	XP_005262210.2:p.Arg1088Gly
XM_005262153.5:c.3262A>G	XP_005262210.2:p.Arg1088Gly
XM_005262154.3:c.3178A>G	XP_005262211.2:p.Arg1060Gly
XM_005262154.5:c.3178A>G	XP_005262211.2:p.Arg1060Gly
XM_005262155.3:c.3148A>G	XP_005262212.2:p.Arg1050Gly
XM_005262155.4:c.3148A>G	XP_005262212.2:p.Arg1050Gly
XM_005262156.3:c.3100A>G	XP_005262213.2:p.Arg1034Gly
XM_005262156.4:c.3100A>G	XP_005262213.2:p.Arg1034Gly
XM_005262157.3:c.3061A>G	XP_005262214.2:p.Arg1021Gly
XM_005262157.5:c.3061A>G	XP_005262214.2:p.Arg1021Gly
XM_006724666.2:c.3148A>G	XP_006724729.1:p.Arg1050Gly
XM_006724666.4:c.3148A>G	XP_006724729.1:p.Arg1050Gly
XM_006724667.2:c.2986A>G	XP_006724730.1:p.Arg996Gly
XM_006724667.3:c.2986A>G	XP_006724730.1:p.Arg996Gly
XM_006724668.2:c.3265A>G	XP_006724731.1:p.Arg1089Gly
XM_006724668.3:c.3265A>G	XP_006724731.1:p.Arg1089Gly
XM_017029601.2:c.3175A>G	XP_016885090.1:p.Arg1059Gly
XM_017029602.1:c.3145A>G	XP_016885091.1:p.Arg1049Gly
XM_017029603.1:c.3097A>G	XP_016885092.1:p.Arg1033Gly
XM_017029604.2:c.3064A>G	XP_016885093.1:p.Arg1022Gly
XM_017029605.1:c.3061A>G	XP_016885094.1:p.Arg1021Gly
XM_017029606.2:c.3034A>G	XP_016885095.1:p.Arg1012Gly
XM_017029607.2:c.3031A>G	XP_016885096.1:p.Arg1011Gly
XM_017029608.2:c.2983A>G	XP_016885097.1:p.Arg995Gly
XM_017029609.1:c.2947A>G	XP_016885098.1:p.Arg983Gly
XM_017029610.1:c.2944A>G	XP_016885099.1:p.Arg982Gly
XM_017029611.1:c.2899A>G	XP_016885100.1:p.Arg967Gly
XR_001755700.2:n.3490A>G
XR_938400.1:n.3533A>G