Canonical Allele Identifier: CA517471513

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1135269
• ClinVar RCV Id: RCV001470458
• dbSNP Id: rs1211312426
• gnomAD v2: X-76907823-C-T
• gnomAD v3: X-77652333-C-T
• gnomAD v4: X-77652333-C-T
• MyVariant Identifiers: chrX:g.76907823C>T (hg19) ; chrX:g.77652333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652333C>T , CM000685.2:g.77652333C>T	GRCh38
NC_000023.10:g.76907823C>T , CM000685.1:g.76907823C>T	GRCh37
NC_000023.9:g.76794479C>T	NCBI36
NG_008838.2:g.138889G>A
NG_008838.3:g.138937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4338G>A MANE Select	ENSP00000362441.4:p.Glu1446=
ENST00000373344.9:c.4338G>A	ENSP00000362441.4:p.Glu1446=
ENST00000395603.7:c.4224G>A	ENSP00000378967.3:p.Glu1408=
ENST00000480283.5:c.*3966G>A	ENSP00000480196.1:n.*3966G>A
NM_000489.4:c.4338G>A	NP_000480.3:p.Glu1446=
NM_138270.3:c.4224G>A	NP_612114.2:p.Glu1408=
XM_005262153.3:c.4335G>A	XP_005262210.2:p.Glu1445=
XM_005262154.3:c.4251G>A	XP_005262211.2:p.Glu1417=
XM_005262155.3:c.4221G>A	XP_005262212.2:p.Glu1407=
XM_005262156.3:c.4173G>A	XP_005262213.2:p.Glu1391=
XM_005262157.3:c.4134G>A	XP_005262214.2:p.Glu1378=
XM_006724666.2:c.4221G>A	XP_006724729.1:p.Glu1407=
XM_006724667.2:c.4059G>A	XP_006724730.1:p.Glu1353=
XM_006724668.2:c.4338G>A	XP_006724731.1:p.Glu1446=
XR_938400.1:n.4606G>A
NM_000489.5:c.4338G>A	NP_000480.3:p.Glu1446=
XM_005262153.5:c.4335G>A	XP_005262210.2:p.Glu1445=
XM_005262154.5:c.4251G>A	XP_005262211.2:p.Glu1417=
XM_005262155.4:c.4221G>A	XP_005262212.2:p.Glu1407=
XM_005262156.4:c.4173G>A	XP_005262213.2:p.Glu1391=
XM_005262157.5:c.4134G>A	XP_005262214.2:p.Glu1378=
XM_006724666.4:c.4221G>A	XP_006724729.1:p.Glu1407=
XM_006724667.3:c.4059G>A	XP_006724730.1:p.Glu1353=
XM_006724668.3:c.4338G>A	XP_006724731.1:p.Glu1446=
XM_017029601.2:c.4248G>A	XP_016885090.1:p.Glu1416=
XM_017029602.1:c.4218G>A	XP_016885091.1:p.Glu1406=
XM_017029603.1:c.4170G>A	XP_016885092.1:p.Glu1390=
XM_017029604.2:c.4137G>A	XP_016885093.1:p.Glu1379=
XM_017029605.1:c.4134G>A	XP_016885094.1:p.Glu1378=
XM_017029606.2:c.4107G>A	XP_016885095.1:p.Glu1369=
XM_017029607.2:c.4104G>A	XP_016885096.1:p.Glu1368=
XM_017029608.2:c.4056G>A	XP_016885097.1:p.Glu1352=
XM_017029609.1:c.4020G>A	XP_016885098.1:p.Glu1340=
XM_017029610.1:c.4017G>A	XP_016885099.1:p.Glu1339=
XM_017029611.1:c.3972G>A	XP_016885100.1:p.Glu1324=
XR_001755700.2:n.4563G>A
NM_138270.4:c.4224G>A	NP_612114.2:p.Glu1408=
NM_000489.6:c.4338G>A MANE Select	NP_000480.3:p.Glu1446=
NM_138270.5:c.4224G>A	NP_612114.2:p.Glu1408=