Canonical Allele Identifier: CA413707861

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682134T>A , CM000685.2:g.77682134T>A	GRCh38
NC_000023.10:g.76937626T>A , CM000685.1:g.76937626T>A	GRCh37
NC_000023.9:g.76824282T>A	NCBI36
NG_008838.2:g.109088A>T
NG_008838.3:g.109136A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3122A>T MANE Select	NP_000480.3:p.Asp1041Val
ENST00000373344.11:c.3122A>T MANE Select	ENSP00000362441.4:p.Asp1041Val
NM_000489.4:c.3122A>T	NP_000480.3:p.Asp1041Val
NM_000489.5:c.3122A>T	NP_000480.3:p.Asp1041Val
NM_138270.3:c.3008A>T	NP_612114.2:p.Asp1003Val
NM_138270.4:c.3008A>T	NP_612114.2:p.Asp1003Val
NM_138270.5:c.3008A>T	NP_612114.2:p.Asp1003Val
ENST00000373344.9:c.3122A>T	ENSP00000362441.4:p.Asp1041Val
ENST00000395603.7:c.3008A>T	ENSP00000378967.3:p.Asp1003Val
ENST00000480283.5:c.*2750A>T	ENSP00000480196.1:n.*2750A>T
ENST00000493470.2:c.8A>T	ENSP00000485408.1:p.Asp3Val
ENST00000624166.3:c.2918A>T	ENSP00000485103.1:p.Asp973Val
XM_005262153.3:c.3119A>T	XP_005262210.2:p.Asp1040Val
XM_005262153.5:c.3119A>T	XP_005262210.2:p.Asp1040Val
XM_005262154.3:c.3035A>T	XP_005262211.2:p.Asp1012Val
XM_005262154.5:c.3035A>T	XP_005262211.2:p.Asp1012Val
XM_005262155.3:c.3005A>T	XP_005262212.2:p.Asp1002Val
XM_005262155.4:c.3005A>T	XP_005262212.2:p.Asp1002Val
XM_005262156.3:c.2957A>T	XP_005262213.2:p.Asp986Val
XM_005262156.4:c.2957A>T	XP_005262213.2:p.Asp986Val
XM_005262157.3:c.2918A>T	XP_005262214.2:p.Asp973Val
XM_005262157.5:c.2918A>T	XP_005262214.2:p.Asp973Val
XM_006724666.2:c.3005A>T	XP_006724729.1:p.Asp1002Val
XM_006724666.4:c.3005A>T	XP_006724729.1:p.Asp1002Val
XM_006724667.2:c.2843A>T	XP_006724730.1:p.Asp948Val
XM_006724667.3:c.2843A>T	XP_006724730.1:p.Asp948Val
XM_006724668.2:c.3122A>T	XP_006724731.1:p.Asp1041Val
XM_006724668.3:c.3122A>T	XP_006724731.1:p.Asp1041Val
XM_017029601.2:c.3032A>T	XP_016885090.1:p.Asp1011Val
XM_017029602.1:c.3002A>T	XP_016885091.1:p.Asp1001Val
XM_017029603.1:c.2954A>T	XP_016885092.1:p.Asp985Val
XM_017029604.2:c.2921A>T	XP_016885093.1:p.Asp974Val
XM_017029605.1:c.2918A>T	XP_016885094.1:p.Asp973Val
XM_017029606.2:c.2891A>T	XP_016885095.1:p.Asp964Val
XM_017029607.2:c.2888A>T	XP_016885096.1:p.Asp963Val
XM_017029608.2:c.2840A>T	XP_016885097.1:p.Asp947Val
XM_017029609.1:c.2804A>T	XP_016885098.1:p.Asp935Val
XM_017029610.1:c.2801A>T	XP_016885099.1:p.Asp934Val
XM_017029611.1:c.2756A>T	XP_016885100.1:p.Asp919Val
XR_001755700.2:n.3347A>T
XR_938400.1:n.3390A>T