Canonical Allele Identifier: CA413722502

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76944342C>A (hg19) ; chrX:g.77688849C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688849C>A , CM000685.2:g.77688849C>A	GRCh38
NC_000023.10:g.76944342C>A , CM000685.1:g.76944342C>A	GRCh37
NC_000023.9:g.76830998C>A	NCBI36
NG_008838.2:g.102373G>T
NG_008838.3:g.102421G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.563G>T MANE Select	ENSP00000362441.4:p.Arg188Ile
ENST00000373344.9:c.563G>T	ENSP00000362441.4:p.Arg188Ile
ENST00000395603.7:c.449G>T	ENSP00000378967.3:p.Arg150Ile
ENST00000480283.5:c.*191G>T	ENSP00000480196.1:n.*191G>T
ENST00000623321.3:c.398G>T	ENSP00000485127.1:p.Arg133Ile
ENST00000624032.3:c.563G>T	ENSP00000485253.1:p.Arg188Ile
ENST00000624166.3:c.446G>T	ENSP00000485103.1:p.Arg149Ile
ENST00000624668.3:c.284G>T	ENSP00000485100.1:p.Arg95Ile
ENST00000625063.3:c.378G>T
NM_000489.4:c.563G>T	NP_000480.3:p.Arg188Ile
NM_138270.3:c.449G>T	NP_612114.2:p.Arg150Ile
XM_005262153.3:c.560G>T	XP_005262210.2:p.Arg187Ile
XM_005262154.3:c.563G>T	XP_005262211.2:p.Arg188Ile
XM_005262155.3:c.446G>T	XP_005262212.2:p.Arg149Ile
XM_005262156.3:c.398G>T	XP_005262213.2:p.Arg133Ile
XM_005262157.3:c.446G>T	XP_005262214.2:p.Arg149Ile
XM_006724666.2:c.446G>T	XP_006724729.1:p.Arg149Ile
XM_006724667.2:c.284G>T	XP_006724730.1:p.Arg95Ile
XM_006724668.2:c.563G>T	XP_006724731.1:p.Arg188Ile
XR_938400.1:n.831G>T
NM_000489.5:c.563G>T	NP_000480.3:p.Arg188Ile
XM_005262153.5:c.560G>T	XP_005262210.2:p.Arg187Ile
XM_005262154.5:c.563G>T	XP_005262211.2:p.Arg188Ile
XM_005262155.4:c.446G>T	XP_005262212.2:p.Arg149Ile
XM_005262156.4:c.398G>T	XP_005262213.2:p.Arg133Ile
XM_005262157.5:c.446G>T	XP_005262214.2:p.Arg149Ile
XM_006724666.4:c.446G>T	XP_006724729.1:p.Arg149Ile
XM_006724667.3:c.284G>T	XP_006724730.1:p.Arg95Ile
XM_006724668.3:c.563G>T	XP_006724731.1:p.Arg188Ile
XM_017029601.2:c.560G>T	XP_016885090.1:p.Arg187Ile
XM_017029602.1:c.443G>T	XP_016885091.1:p.Arg148Ile
XM_017029603.1:c.395G>T	XP_016885092.1:p.Arg132Ile
XM_017029604.2:c.449G>T	XP_016885093.1:p.Arg150Ile
XM_017029605.1:c.446G>T	XP_016885094.1:p.Arg149Ile
XM_017029606.2:c.332G>T	XP_016885095.1:p.Arg111Ile
XM_017029607.2:c.329G>T	XP_016885096.1:p.Arg110Ile
XM_017029608.2:c.281G>T	XP_016885097.1:p.Arg94Ile
XM_017029609.1:c.332G>T	XP_016885098.1:p.Arg111Ile
XM_017029610.1:c.329G>T	XP_016885099.1:p.Arg110Ile
XM_017029611.1:c.284G>T	XP_016885100.1:p.Arg95Ile
XR_001755700.2:n.788G>T
NM_138270.4:c.449G>T	NP_612114.2:p.Arg150Ile
NM_000489.6:c.563G>T MANE Select	NP_000480.3:p.Arg188Ile
NM_138270.5:c.449G>T	NP_612114.2:p.Arg150Ile