Canonical Allele Identifier: CA413701042

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829757C>A (hg19) ; chrX:g.77574292C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574292C>A , CM000685.2:g.77574292C>A	GRCh38
NC_000023.10:g.76829757C>A , CM000685.1:g.76829757C>A	GRCh37
NC_000023.9:g.76716413C>A	NCBI36
NG_008838.2:g.216930G>T
NG_008838.3:g.216978G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6284G>T MANE Select	ENSP00000362441.4:p.Arg2095Met
ENST00000675732.1:c.1382G>T	ENSP00000502598.1:p.Arg461Met
ENST00000373344.9:c.6284G>T	ENSP00000362441.4:p.Arg2095Met
ENST00000395603.7:c.6170G>T	ENSP00000378967.3:p.Arg2057Met
ENST00000480283.5:c.*5912G>T	ENSP00000480196.1:n.*5912G>T
ENST00000623316.1:c.768G>T
ENST00000623706.3:n.3354G>T
NM_000489.4:c.6284G>T	NP_000480.3:p.Arg2095Met
NM_138270.3:c.6170G>T	NP_612114.2:p.Arg2057Met
XM_005262153.3:c.6281G>T	XP_005262210.2:p.Arg2094Met
XM_005262154.3:c.6197G>T	XP_005262211.2:p.Arg2066Met
XM_005262155.3:c.6167G>T	XP_005262212.2:p.Arg2056Met
XM_005262156.3:c.6119G>T	XP_005262213.2:p.Arg2040Met
XM_005262157.3:c.6080G>T	XP_005262214.2:p.Arg2027Met
XM_006724666.2:c.6167G>T	XP_006724729.1:p.Arg2056Met
XM_006724667.2:c.6005G>T	XP_006724730.1:p.Arg2002Met
XR_938400.1:n.6626G>T
NM_000489.5:c.6284G>T	NP_000480.3:p.Arg2095Met
XM_005262153.5:c.6281G>T	XP_005262210.2:p.Arg2094Met
XM_005262154.5:c.6197G>T	XP_005262211.2:p.Arg2066Met
XM_005262155.4:c.6167G>T	XP_005262212.2:p.Arg2056Met
XM_005262156.4:c.6119G>T	XP_005262213.2:p.Arg2040Met
XM_005262157.5:c.6080G>T	XP_005262214.2:p.Arg2027Met
XM_006724666.4:c.6167G>T	XP_006724729.1:p.Arg2056Met
XM_006724667.3:c.6005G>T	XP_006724730.1:p.Arg2002Met
XM_017029601.2:c.6194G>T	XP_016885090.1:p.Arg2065Met
XM_017029602.1:c.6164G>T	XP_016885091.1:p.Arg2055Met
XM_017029603.1:c.6116G>T	XP_016885092.1:p.Arg2039Met
XM_017029604.2:c.6083G>T	XP_016885093.1:p.Arg2028Met
XM_017029605.1:c.6080G>T	XP_016885094.1:p.Arg2027Met
XM_017029606.2:c.6053G>T	XP_016885095.1:p.Arg2018Met
XM_017029607.2:c.6050G>T	XP_016885096.1:p.Arg2017Met
XM_017029608.2:c.6002G>T	XP_016885097.1:p.Arg2001Met
XM_017029609.1:c.5966G>T	XP_016885098.1:p.Arg1989Met
XM_017029610.1:c.5963G>T	XP_016885099.1:p.Arg1988Met
XM_017029611.1:c.5918G>T	XP_016885100.1:p.Arg1973Met
XR_001755700.2:n.6583G>T
NM_138270.4:c.6170G>T	NP_612114.2:p.Arg2057Met
NM_000489.6:c.6284G>T MANE Select	NP_000480.3:p.Arg2095Met
NM_138270.5:c.6170G>T	NP_612114.2:p.Arg2057Met