Canonical Allele Identifier: CA413707021

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681986C>A , CM000685.2:g.77681986C>A	GRCh38
NC_000023.10:g.76937478C>A , CM000685.1:g.76937478C>A	GRCh37
NC_000023.9:g.76824134C>A	NCBI36
NG_008838.2:g.109236G>T
NG_008838.3:g.109284G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3270G>T MANE Select	NP_000480.3:p.Glu1090Asp
ENST00000373344.11:c.3270G>T MANE Select	ENSP00000362441.4:p.Glu1090Asp
NM_000489.4:c.3270G>T	NP_000480.3:p.Glu1090Asp
NM_000489.5:c.3270G>T	NP_000480.3:p.Glu1090Asp
NM_138270.3:c.3156G>T	NP_612114.2:p.Glu1052Asp
NM_138270.4:c.3156G>T	NP_612114.2:p.Glu1052Asp
NM_138270.5:c.3156G>T	NP_612114.2:p.Glu1052Asp
ENST00000373344.9:c.3270G>T	ENSP00000362441.4:p.Glu1090Asp
ENST00000395603.7:c.3156G>T	ENSP00000378967.3:p.Glu1052Asp
ENST00000480283.5:c.*2898G>T	ENSP00000480196.1:n.*2898G>T
ENST00000493470.2:c.156G>T	ENSP00000485408.1:p.Glu52Asp
ENST00000624166.3:c.3066G>T	ENSP00000485103.1:p.Glu1022Asp
XM_005262153.3:c.3267G>T	XP_005262210.2:p.Glu1089Asp
XM_005262153.5:c.3267G>T	XP_005262210.2:p.Glu1089Asp
XM_005262154.3:c.3183G>T	XP_005262211.2:p.Glu1061Asp
XM_005262154.5:c.3183G>T	XP_005262211.2:p.Glu1061Asp
XM_005262155.3:c.3153G>T	XP_005262212.2:p.Glu1051Asp
XM_005262155.4:c.3153G>T	XP_005262212.2:p.Glu1051Asp
XM_005262156.3:c.3105G>T	XP_005262213.2:p.Glu1035Asp
XM_005262156.4:c.3105G>T	XP_005262213.2:p.Glu1035Asp
XM_005262157.3:c.3066G>T	XP_005262214.2:p.Glu1022Asp
XM_005262157.5:c.3066G>T	XP_005262214.2:p.Glu1022Asp
XM_006724666.2:c.3153G>T	XP_006724729.1:p.Glu1051Asp
XM_006724666.4:c.3153G>T	XP_006724729.1:p.Glu1051Asp
XM_006724667.2:c.2991G>T	XP_006724730.1:p.Glu997Asp
XM_006724667.3:c.2991G>T	XP_006724730.1:p.Glu997Asp
XM_006724668.2:c.3270G>T	XP_006724731.1:p.Glu1090Asp
XM_006724668.3:c.3270G>T	XP_006724731.1:p.Glu1090Asp
XM_017029601.2:c.3180G>T	XP_016885090.1:p.Glu1060Asp
XM_017029602.1:c.3150G>T	XP_016885091.1:p.Glu1050Asp
XM_017029603.1:c.3102G>T	XP_016885092.1:p.Glu1034Asp
XM_017029604.2:c.3069G>T	XP_016885093.1:p.Glu1023Asp
XM_017029605.1:c.3066G>T	XP_016885094.1:p.Glu1022Asp
XM_017029606.2:c.3039G>T	XP_016885095.1:p.Glu1013Asp
XM_017029607.2:c.3036G>T	XP_016885096.1:p.Glu1012Asp
XM_017029608.2:c.2988G>T	XP_016885097.1:p.Glu996Asp
XM_017029609.1:c.2952G>T	XP_016885098.1:p.Glu984Asp
XM_017029610.1:c.2949G>T	XP_016885099.1:p.Glu983Asp
XM_017029611.1:c.2904G>T	XP_016885100.1:p.Glu968Asp
XR_001755700.2:n.3495G>T
XR_938400.1:n.3538G>T