Canonical Allele Identifier: CA413720560

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76939921A>T (hg19) ; chrX:g.77684429A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684429A>T , CM000685.2:g.77684429A>T	GRCh38
NC_000023.10:g.76939921A>T , CM000685.1:g.76939921A>T	GRCh37
NC_000023.9:g.76826577A>T	NCBI36
NG_008838.2:g.106793T>A
NG_008838.3:g.106841T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.827T>A MANE Select	ENSP00000362441.4:p.Leu276Ter
ENST00000373344.9:c.827T>A	ENSP00000362441.4:p.Leu276Ter
ENST00000395603.7:c.713T>A	ENSP00000378967.3:p.Leu238Ter
ENST00000480283.5:c.*455T>A	ENSP00000480196.1:n.*455T>A
ENST00000623321.3:c.662T>A	ENSP00000485127.1:p.Leu221Ter
ENST00000624032.3:c.827T>A	ENSP00000485253.1:p.Leu276Ter
ENST00000624166.3:c.710T>A	ENSP00000485103.1:p.Leu237Ter
NM_000489.4:c.827T>A	NP_000480.3:p.Leu276Ter
NM_138270.3:c.713T>A	NP_612114.2:p.Leu238Ter
XM_005262153.3:c.824T>A	XP_005262210.2:p.Leu275Ter
XM_005262154.3:c.827T>A	XP_005262211.2:p.Leu276Ter
XM_005262155.3:c.710T>A	XP_005262212.2:p.Leu237Ter
XM_005262156.3:c.662T>A	XP_005262213.2:p.Leu221Ter
XM_005262157.3:c.710T>A	XP_005262214.2:p.Leu237Ter
XM_006724666.2:c.710T>A	XP_006724729.1:p.Leu237Ter
XM_006724667.2:c.548T>A	XP_006724730.1:p.Leu183Ter
XM_006724668.2:c.827T>A	XP_006724731.1:p.Leu276Ter
XR_938400.1:n.1095T>A
NM_000489.5:c.827T>A	NP_000480.3:p.Leu276Ter
XM_005262153.5:c.824T>A	XP_005262210.2:p.Leu275Ter
XM_005262154.5:c.827T>A	XP_005262211.2:p.Leu276Ter
XM_005262155.4:c.710T>A	XP_005262212.2:p.Leu237Ter
XM_005262156.4:c.662T>A	XP_005262213.2:p.Leu221Ter
XM_005262157.5:c.710T>A	XP_005262214.2:p.Leu237Ter
XM_006724666.4:c.710T>A	XP_006724729.1:p.Leu237Ter
XM_006724667.3:c.548T>A	XP_006724730.1:p.Leu183Ter
XM_006724668.3:c.827T>A	XP_006724731.1:p.Leu276Ter
XM_017029601.2:c.824T>A	XP_016885090.1:p.Leu275Ter
XM_017029602.1:c.707T>A	XP_016885091.1:p.Leu236Ter
XM_017029603.1:c.659T>A	XP_016885092.1:p.Leu220Ter
XM_017029604.2:c.713T>A	XP_016885093.1:p.Leu238Ter
XM_017029605.1:c.710T>A	XP_016885094.1:p.Leu237Ter
XM_017029606.2:c.596T>A	XP_016885095.1:p.Leu199Ter
XM_017029607.2:c.593T>A	XP_016885096.1:p.Leu198Ter
XM_017029608.2:c.545T>A	XP_016885097.1:p.Leu182Ter
XM_017029609.1:c.596T>A	XP_016885098.1:p.Leu199Ter
XM_017029610.1:c.593T>A	XP_016885099.1:p.Leu198Ter
XM_017029611.1:c.548T>A	XP_016885100.1:p.Leu183Ter
XR_001755700.2:n.1052T>A
NM_138270.4:c.713T>A	NP_612114.2:p.Leu238Ter
NM_000489.6:c.827T>A MANE Select	NP_000480.3:p.Leu276Ter
NM_138270.5:c.713T>A	NP_612114.2:p.Leu238Ter