Canonical Allele Identifier: CA517471504

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1626819
• ClinVar RCV Id: RCV002132770
• dbSNP Id: rs1569535350
• gnomAD v4: X-77652306-C-T
• MyVariant Identifiers: chrX:g.76907796C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652306C>T , CM000685.2:g.77652306C>T	GRCh38
NC_000023.10:g.76907796C>T , CM000685.1:g.76907796C>T	GRCh37
NC_000023.9:g.76794452C>T	NCBI36
NG_008838.2:g.138916G>A
NG_008838.3:g.138964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4365G>A MANE Select	ENSP00000362441.4:p.Glu1455=
ENST00000373344.9:c.4365G>A	ENSP00000362441.4:p.Glu1455=
ENST00000395603.7:c.4251G>A	ENSP00000378967.3:p.Glu1417=
ENST00000480283.5:c.*3993G>A	ENSP00000480196.1:n.*3993G>A
NM_000489.4:c.4365G>A	NP_000480.3:p.Glu1455=
NM_138270.3:c.4251G>A	NP_612114.2:p.Glu1417=
XM_005262153.3:c.4362G>A	XP_005262210.2:p.Glu1454=
XM_005262154.3:c.4278G>A	XP_005262211.2:p.Glu1426=
XM_005262155.3:c.4248G>A	XP_005262212.2:p.Glu1416=
XM_005262156.3:c.4200G>A	XP_005262213.2:p.Glu1400=
XM_005262157.3:c.4161G>A	XP_005262214.2:p.Glu1387=
XM_006724666.2:c.4248G>A	XP_006724729.1:p.Glu1416=
XM_006724667.2:c.4086G>A	XP_006724730.1:p.Glu1362=
XM_006724668.2:c.4365G>A	XP_006724731.1:p.Glu1455=
XR_938400.1:n.4633G>A
NM_000489.5:c.4365G>A	NP_000480.3:p.Glu1455=
XM_005262153.5:c.4362G>A	XP_005262210.2:p.Glu1454=
XM_005262154.5:c.4278G>A	XP_005262211.2:p.Glu1426=
XM_005262155.4:c.4248G>A	XP_005262212.2:p.Glu1416=
XM_005262156.4:c.4200G>A	XP_005262213.2:p.Glu1400=
XM_005262157.5:c.4161G>A	XP_005262214.2:p.Glu1387=
XM_006724666.4:c.4248G>A	XP_006724729.1:p.Glu1416=
XM_006724667.3:c.4086G>A	XP_006724730.1:p.Glu1362=
XM_006724668.3:c.4365G>A	XP_006724731.1:p.Glu1455=
XM_017029601.2:c.4275G>A	XP_016885090.1:p.Glu1425=
XM_017029602.1:c.4245G>A	XP_016885091.1:p.Glu1415=
XM_017029603.1:c.4197G>A	XP_016885092.1:p.Glu1399=
XM_017029604.2:c.4164G>A	XP_016885093.1:p.Glu1388=
XM_017029605.1:c.4161G>A	XP_016885094.1:p.Glu1387=
XM_017029606.2:c.4134G>A	XP_016885095.1:p.Glu1378=
XM_017029607.2:c.4131G>A	XP_016885096.1:p.Glu1377=
XM_017029608.2:c.4083G>A	XP_016885097.1:p.Glu1361=
XM_017029609.1:c.4047G>A	XP_016885098.1:p.Glu1349=
XM_017029610.1:c.4044G>A	XP_016885099.1:p.Glu1348=
XM_017029611.1:c.3999G>A	XP_016885100.1:p.Glu1333=
XR_001755700.2:n.4590G>A
NM_138270.4:c.4251G>A	NP_612114.2:p.Glu1417=
NM_000489.6:c.4365G>A MANE Select	NP_000480.3:p.Glu1455=
NM_138270.5:c.4251G>A	NP_612114.2:p.Glu1417=