Canonical Allele Identifier: CA517471495

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2697761
• ClinVar RCV Id: RCV003512350
• COSMIC: COSM1125437 ; COSM1125438
• MyVariant Identifiers: chrX:g.76907772C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652282C>T , CM000685.2:g.77652282C>T	GRCh38
NC_000023.10:g.76907772C>T , CM000685.1:g.76907772C>T	GRCh37
NC_000023.9:g.76794428C>T	NCBI36
NG_008838.2:g.138940G>A
NG_008838.3:g.138988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4389G>A MANE Select	ENSP00000362441.4:p.Glu1463=
ENST00000373344.9:c.4389G>A	ENSP00000362441.4:p.Glu1463=
ENST00000395603.7:c.4275G>A	ENSP00000378967.3:p.Glu1425=
ENST00000480283.5:c.*4017G>A	ENSP00000480196.1:n.*4017G>A
NM_000489.4:c.4389G>A	NP_000480.3:p.Glu1463=
NM_138270.3:c.4275G>A	NP_612114.2:p.Glu1425=
XM_005262153.3:c.4386G>A	XP_005262210.2:p.Glu1462=
XM_005262154.3:c.4302G>A	XP_005262211.2:p.Glu1434=
XM_005262155.3:c.4272G>A	XP_005262212.2:p.Glu1424=
XM_005262156.3:c.4224G>A	XP_005262213.2:p.Glu1408=
XM_005262157.3:c.4185G>A	XP_005262214.2:p.Glu1395=
XM_006724666.2:c.4272G>A	XP_006724729.1:p.Glu1424=
XM_006724667.2:c.4110G>A	XP_006724730.1:p.Glu1370=
XM_006724668.2:c.4389G>A	XP_006724731.1:p.Glu1463=
XR_938400.1:n.4657G>A
NM_000489.5:c.4389G>A	NP_000480.3:p.Glu1463=
XM_005262153.5:c.4386G>A	XP_005262210.2:p.Glu1462=
XM_005262154.5:c.4302G>A	XP_005262211.2:p.Glu1434=
XM_005262155.4:c.4272G>A	XP_005262212.2:p.Glu1424=
XM_005262156.4:c.4224G>A	XP_005262213.2:p.Glu1408=
XM_005262157.5:c.4185G>A	XP_005262214.2:p.Glu1395=
XM_006724666.4:c.4272G>A	XP_006724729.1:p.Glu1424=
XM_006724667.3:c.4110G>A	XP_006724730.1:p.Glu1370=
XM_006724668.3:c.4389G>A	XP_006724731.1:p.Glu1463=
XM_017029601.2:c.4299G>A	XP_016885090.1:p.Glu1433=
XM_017029602.1:c.4269G>A	XP_016885091.1:p.Glu1423=
XM_017029603.1:c.4221G>A	XP_016885092.1:p.Glu1407=
XM_017029604.2:c.4188G>A	XP_016885093.1:p.Glu1396=
XM_017029605.1:c.4185G>A	XP_016885094.1:p.Glu1395=
XM_017029606.2:c.4158G>A	XP_016885095.1:p.Glu1386=
XM_017029607.2:c.4155G>A	XP_016885096.1:p.Glu1385=
XM_017029608.2:c.4107G>A	XP_016885097.1:p.Glu1369=
XM_017029609.1:c.4071G>A	XP_016885098.1:p.Glu1357=
XM_017029610.1:c.4068G>A	XP_016885099.1:p.Glu1356=
XM_017029611.1:c.4023G>A	XP_016885100.1:p.Glu1341=
XR_001755700.2:n.4614G>A
NM_138270.4:c.4275G>A	NP_612114.2:p.Glu1425=
NM_000489.6:c.4389G>A MANE Select	NP_000480.3:p.Glu1463=
NM_138270.5:c.4275G>A	NP_612114.2:p.Glu1425=