Canonical Allele Identifier: CA10458087

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682833C>T , CM000685.2:g.77682833C>T	GRCh38
NC_000023.10:g.76938325C>T , CM000685.1:g.76938325C>T	GRCh37
NC_000023.9:g.76824981C>T	NCBI36
NG_008838.2:g.108389G>A
NG_008838.3:g.108437G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2423G>A MANE Select	NP_000480.3:p.Arg808Gln
ENST00000373344.11:c.2423G>A MANE Select	ENSP00000362441.4:p.Arg808Gln
NM_000489.4:c.2423G>A	NP_000480.3:p.Arg808Gln
NM_000489.5:c.2423G>A	NP_000480.3:p.Arg808Gln
NM_138270.3:c.2309G>A	NP_612114.2:p.Arg770Gln
NM_138270.4:c.2309G>A	NP_612114.2:p.Arg770Gln
NM_138270.5:c.2309G>A	NP_612114.2:p.Arg770Gln
ENST00000373344.9:c.2423G>A	ENSP00000362441.4:p.Arg808Gln
ENST00000395603.7:c.2309G>A	ENSP00000378967.3:p.Arg770Gln
ENST00000480283.5:c.*2051G>A	ENSP00000480196.1:n.*2051G>A
ENST00000624032.3:c.2336G>A	ENSP00000485253.1:p.Arg779Gln
ENST00000624166.3:c.2219G>A	ENSP00000485103.1:p.Arg740Gln
XM_005262153.3:c.2420G>A	XP_005262210.2:p.Arg807Gln
XM_005262153.5:c.2420G>A	XP_005262210.2:p.Arg807Gln
XM_005262154.3:c.2336G>A	XP_005262211.2:p.Arg779Gln
XM_005262154.5:c.2336G>A	XP_005262211.2:p.Arg779Gln
XM_005262155.3:c.2306G>A	XP_005262212.2:p.Arg769Gln
XM_005262155.4:c.2306G>A	XP_005262212.2:p.Arg769Gln
XM_005262156.3:c.2258G>A	XP_005262213.2:p.Arg753Gln
XM_005262156.4:c.2258G>A	XP_005262213.2:p.Arg753Gln
XM_005262157.3:c.2219G>A	XP_005262214.2:p.Arg740Gln
XM_005262157.5:c.2219G>A	XP_005262214.2:p.Arg740Gln
XM_006724666.2:c.2306G>A	XP_006724729.1:p.Arg769Gln
XM_006724666.4:c.2306G>A	XP_006724729.1:p.Arg769Gln
XM_006724667.2:c.2144G>A	XP_006724730.1:p.Arg715Gln
XM_006724667.3:c.2144G>A	XP_006724730.1:p.Arg715Gln
XM_006724668.2:c.2423G>A	XP_006724731.1:p.Arg808Gln
XM_006724668.3:c.2423G>A	XP_006724731.1:p.Arg808Gln
XM_017029601.2:c.2333G>A	XP_016885090.1:p.Arg778Gln
XM_017029602.1:c.2303G>A	XP_016885091.1:p.Arg768Gln
XM_017029603.1:c.2255G>A	XP_016885092.1:p.Arg752Gln
XM_017029604.2:c.2222G>A	XP_016885093.1:p.Arg741Gln
XM_017029605.1:c.2219G>A	XP_016885094.1:p.Arg740Gln
XM_017029606.2:c.2192G>A	XP_016885095.1:p.Arg731Gln
XM_017029607.2:c.2189G>A	XP_016885096.1:p.Arg730Gln
XM_017029608.2:c.2141G>A	XP_016885097.1:p.Arg714Gln
XM_017029609.1:c.2105G>A	XP_016885098.1:p.Arg702Gln
XM_017029610.1:c.2102G>A	XP_016885099.1:p.Arg701Gln
XM_017029611.1:c.2057G>A	XP_016885100.1:p.Arg686Gln
XR_001755700.2:n.2648G>A
XR_938400.1:n.2691G>A