Canonical Allele Identifier: CA413708290

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682192G>A , CM000685.2:g.77682192G>A	GRCh38
NC_000023.10:g.76937684G>A , CM000685.1:g.76937684G>A	GRCh37
NC_000023.9:g.76824340G>A	NCBI36
NG_008838.2:g.109030C>T
NG_008838.3:g.109078C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3064C>T MANE Select	NP_000480.3:p.Arg1022Ter
ENST00000373344.11:c.3064C>T MANE Select	ENSP00000362441.4:p.Arg1022Ter
NM_000489.4:c.3064C>T	NP_000480.3:p.Arg1022Ter
NM_000489.5:c.3064C>T	NP_000480.3:p.Arg1022Ter
NM_138270.3:c.2950C>T	NP_612114.2:p.Arg984Ter
NM_138270.4:c.2950C>T	NP_612114.2:p.Arg984Ter
NM_138270.5:c.2950C>T	NP_612114.2:p.Arg984Ter
ENST00000373344.9:c.3064C>T	ENSP00000362441.4:p.Arg1022Ter
ENST00000395603.7:c.2950C>T	ENSP00000378967.3:p.Arg984Ter
ENST00000480283.5:c.*2692C>T	ENSP00000480196.1:n.*2692C>T
ENST00000624166.3:c.2860C>T	ENSP00000485103.1:p.Arg954Ter
XM_005262153.3:c.3061C>T	XP_005262210.2:p.Arg1021Ter
XM_005262153.5:c.3061C>T	XP_005262210.2:p.Arg1021Ter
XM_005262154.3:c.2977C>T	XP_005262211.2:p.Arg993Ter
XM_005262154.5:c.2977C>T	XP_005262211.2:p.Arg993Ter
XM_005262155.3:c.2947C>T	XP_005262212.2:p.Arg983Ter
XM_005262155.4:c.2947C>T	XP_005262212.2:p.Arg983Ter
XM_005262156.3:c.2899C>T	XP_005262213.2:p.Arg967Ter
XM_005262156.4:c.2899C>T	XP_005262213.2:p.Arg967Ter
XM_005262157.3:c.2860C>T	XP_005262214.2:p.Arg954Ter
XM_005262157.5:c.2860C>T	XP_005262214.2:p.Arg954Ter
XM_006724666.2:c.2947C>T	XP_006724729.1:p.Arg983Ter
XM_006724666.4:c.2947C>T	XP_006724729.1:p.Arg983Ter
XM_006724667.2:c.2785C>T	XP_006724730.1:p.Arg929Ter
XM_006724667.3:c.2785C>T	XP_006724730.1:p.Arg929Ter
XM_006724668.2:c.3064C>T	XP_006724731.1:p.Arg1022Ter
XM_006724668.3:c.3064C>T	XP_006724731.1:p.Arg1022Ter
XM_017029601.2:c.2974C>T	XP_016885090.1:p.Arg992Ter
XM_017029602.1:c.2944C>T	XP_016885091.1:p.Arg982Ter
XM_017029603.1:c.2896C>T	XP_016885092.1:p.Arg966Ter
XM_017029604.2:c.2863C>T	XP_016885093.1:p.Arg955Ter
XM_017029605.1:c.2860C>T	XP_016885094.1:p.Arg954Ter
XM_017029606.2:c.2833C>T	XP_016885095.1:p.Arg945Ter
XM_017029607.2:c.2830C>T	XP_016885096.1:p.Arg944Ter
XM_017029608.2:c.2782C>T	XP_016885097.1:p.Arg928Ter
XM_017029609.1:c.2746C>T	XP_016885098.1:p.Arg916Ter
XM_017029610.1:c.2743C>T	XP_016885099.1:p.Arg915Ter
XM_017029611.1:c.2698C>T	XP_016885100.1:p.Arg900Ter
XR_001755700.2:n.3289C>T
XR_938400.1:n.3332C>T