Canonical Allele Identifier: CA517471509

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1160030
• ClinVar RCV Id: RCV001503969
• dbSNP Id: rs1445980438
• MyVariant Identifiers: chrX:g.76907811T>C (hg19) ; chrX:g.77652321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652321T>C , CM000685.2:g.77652321T>C	GRCh38
NC_000023.10:g.76907811T>C , CM000685.1:g.76907811T>C	GRCh37
NC_000023.9:g.76794467T>C	NCBI36
NG_008838.2:g.138901A>G
NG_008838.3:g.138949A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4350A>G MANE Select	ENSP00000362441.4:p.Glu1450=
ENST00000373344.9:c.4350A>G	ENSP00000362441.4:p.Glu1450=
ENST00000395603.7:c.4236A>G	ENSP00000378967.3:p.Glu1412=
ENST00000480283.5:c.*3978A>G	ENSP00000480196.1:n.*3978A>G
NM_000489.4:c.4350A>G	NP_000480.3:p.Glu1450=
NM_138270.3:c.4236A>G	NP_612114.2:p.Glu1412=
XM_005262153.3:c.4347A>G	XP_005262210.2:p.Glu1449=
XM_005262154.3:c.4263A>G	XP_005262211.2:p.Glu1421=
XM_005262155.3:c.4233A>G	XP_005262212.2:p.Glu1411=
XM_005262156.3:c.4185A>G	XP_005262213.2:p.Glu1395=
XM_005262157.3:c.4146A>G	XP_005262214.2:p.Glu1382=
XM_006724666.2:c.4233A>G	XP_006724729.1:p.Glu1411=
XM_006724667.2:c.4071A>G	XP_006724730.1:p.Glu1357=
XM_006724668.2:c.4350A>G	XP_006724731.1:p.Glu1450=
XR_938400.1:n.4618A>G
NM_000489.5:c.4350A>G	NP_000480.3:p.Glu1450=
XM_005262153.5:c.4347A>G	XP_005262210.2:p.Glu1449=
XM_005262154.5:c.4263A>G	XP_005262211.2:p.Glu1421=
XM_005262155.4:c.4233A>G	XP_005262212.2:p.Glu1411=
XM_005262156.4:c.4185A>G	XP_005262213.2:p.Glu1395=
XM_005262157.5:c.4146A>G	XP_005262214.2:p.Glu1382=
XM_006724666.4:c.4233A>G	XP_006724729.1:p.Glu1411=
XM_006724667.3:c.4071A>G	XP_006724730.1:p.Glu1357=
XM_006724668.3:c.4350A>G	XP_006724731.1:p.Glu1450=
XM_017029601.2:c.4260A>G	XP_016885090.1:p.Glu1420=
XM_017029602.1:c.4230A>G	XP_016885091.1:p.Glu1410=
XM_017029603.1:c.4182A>G	XP_016885092.1:p.Glu1394=
XM_017029604.2:c.4149A>G	XP_016885093.1:p.Glu1383=
XM_017029605.1:c.4146A>G	XP_016885094.1:p.Glu1382=
XM_017029606.2:c.4119A>G	XP_016885095.1:p.Glu1373=
XM_017029607.2:c.4116A>G	XP_016885096.1:p.Glu1372=
XM_017029608.2:c.4068A>G	XP_016885097.1:p.Glu1356=
XM_017029609.1:c.4032A>G	XP_016885098.1:p.Glu1344=
XM_017029610.1:c.4029A>G	XP_016885099.1:p.Glu1343=
XM_017029611.1:c.3984A>G	XP_016885100.1:p.Glu1328=
XR_001755700.2:n.4575A>G
NM_138270.4:c.4236A>G	NP_612114.2:p.Glu1412=
NM_000489.6:c.4350A>G MANE Select	NP_000480.3:p.Glu1450=
NM_138270.5:c.4236A>G	NP_612114.2:p.Glu1412=