Canonical Allele Identifier: CA236355

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683154C>T , CM000685.2:g.77683154C>T	GRCh38
NC_000023.10:g.76938646C>T , CM000685.1:g.76938646C>T	GRCh37
NC_000023.9:g.76825302C>T	NCBI36
NG_008838.2:g.108068G>A
NG_008838.3:g.108116G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2102G>A MANE Select	NP_000480.3:p.Arg701His
ENST00000373344.11:c.2102G>A MANE Select	ENSP00000362441.4:p.Arg701His
NM_000489.4:c.2102G>A	NP_000480.3:p.Arg701His
NM_000489.5:c.2102G>A	NP_000480.3:p.Arg701His
NM_138270.3:c.1988G>A	NP_612114.2:p.Arg663His
NM_138270.4:c.1988G>A	NP_612114.2:p.Arg663His
NM_138270.5:c.1988G>A	NP_612114.2:p.Arg663His
ENST00000373344.9:c.2102G>A	ENSP00000362441.4:p.Arg701His
ENST00000395603.7:c.1988G>A	ENSP00000378967.3:p.Arg663His
ENST00000480283.5:c.*1730G>A	ENSP00000480196.1:n.*1730G>A
ENST00000624032.3:c.2015G>A	ENSP00000485253.1:p.Arg672His
ENST00000624166.3:c.1898G>A	ENSP00000485103.1:p.Arg633His
XM_005262153.3:c.2099G>A	XP_005262210.2:p.Arg700His
XM_005262153.5:c.2099G>A	XP_005262210.2:p.Arg700His
XM_005262154.3:c.2015G>A	XP_005262211.2:p.Arg672His
XM_005262154.5:c.2015G>A	XP_005262211.2:p.Arg672His
XM_005262155.3:c.1985G>A	XP_005262212.2:p.Arg662His
XM_005262155.4:c.1985G>A	XP_005262212.2:p.Arg662His
XM_005262156.3:c.1937G>A	XP_005262213.2:p.Arg646His
XM_005262156.4:c.1937G>A	XP_005262213.2:p.Arg646His
XM_005262157.3:c.1898G>A	XP_005262214.2:p.Arg633His
XM_005262157.5:c.1898G>A	XP_005262214.2:p.Arg633His
XM_006724666.2:c.1985G>A	XP_006724729.1:p.Arg662His
XM_006724666.4:c.1985G>A	XP_006724729.1:p.Arg662His
XM_006724667.2:c.1823G>A	XP_006724730.1:p.Arg608His
XM_006724667.3:c.1823G>A	XP_006724730.1:p.Arg608His
XM_006724668.2:c.2102G>A	XP_006724731.1:p.Arg701His
XM_006724668.3:c.2102G>A	XP_006724731.1:p.Arg701His
XM_017029601.2:c.2012G>A	XP_016885090.1:p.Arg671His
XM_017029602.1:c.1982G>A	XP_016885091.1:p.Arg661His
XM_017029603.1:c.1934G>A	XP_016885092.1:p.Arg645His
XM_017029604.2:c.1901G>A	XP_016885093.1:p.Arg634His
XM_017029605.1:c.1898G>A	XP_016885094.1:p.Arg633His
XM_017029606.2:c.1871G>A	XP_016885095.1:p.Arg624His
XM_017029607.2:c.1868G>A	XP_016885096.1:p.Arg623His
XM_017029608.2:c.1820G>A	XP_016885097.1:p.Arg607His
XM_017029609.1:c.1784G>A	XP_016885098.1:p.Arg595His
XM_017029610.1:c.1781G>A	XP_016885099.1:p.Arg594His
XM_017029611.1:c.1736G>A	XP_016885100.1:p.Arg579His
XR_001755700.2:n.2327G>A
XR_938400.1:n.2370G>A