Canonical Allele Identifier: CA16609409

Gene: ATRX

Linked Data

• ClinVar Variation Id: 397524
• ClinVar RCV Id: RCV000449558
• dbSNP Id: rs1060499658
• MyVariant Identifiers: chrX:g.76845399C>T (hg19) ; chrX:g.77589929C>T (hg38)
• PubMed: PMID:24759409

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77589929C>T , CM000685.2:g.77589929C>T	GRCh38
NC_000023.10:g.76845399C>T , CM000685.1:g.76845399C>T	GRCh37
NC_000023.9:g.76732055C>T	NCBI36
NG_008838.2:g.201293G>A
NG_008838.3:g.201341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6122G>A MANE Select	ENSP00000362441.4:p.Ser2041Asn
ENST00000675732.1:c.1220G>A	ENSP00000502598.1:p.Ser407Asn
ENST00000373344.9:c.6122G>A	ENSP00000362441.4:p.Ser2041Asn
ENST00000395603.7:c.6008G>A	ENSP00000378967.3:p.Ser2003Asn
ENST00000480283.5:c.*5750G>A	ENSP00000480196.1:n.*5750G>A
ENST00000623316.1:c.606G>A
ENST00000623706.3:n.3192G>A
NM_000489.4:c.6122G>A	NP_000480.3:p.Ser2041Asn
NM_138270.3:c.6008G>A	NP_612114.2:p.Ser2003Asn
XM_005262153.3:c.6119G>A	XP_005262210.2:p.Ser2040Asn
XM_005262154.3:c.6035G>A	XP_005262211.2:p.Ser2012Asn
XM_005262155.3:c.6005G>A	XP_005262212.2:p.Ser2002Asn
XM_005262156.3:c.5957G>A	XP_005262213.2:p.Ser1986Asn
XM_005262157.3:c.5918G>A	XP_005262214.2:p.Ser1973Asn
XM_006724666.2:c.6005G>A	XP_006724729.1:p.Ser2002Asn
XM_006724667.2:c.5843G>A	XP_006724730.1:p.Ser1948Asn
XR_938400.1:n.6464G>A
NM_000489.5:c.6122G>A	NP_000480.3:p.Ser2041Asn
XM_005262153.5:c.6119G>A	XP_005262210.2:p.Ser2040Asn
XM_005262154.5:c.6035G>A	XP_005262211.2:p.Ser2012Asn
XM_005262155.4:c.6005G>A	XP_005262212.2:p.Ser2002Asn
XM_005262156.4:c.5957G>A	XP_005262213.2:p.Ser1986Asn
XM_005262157.5:c.5918G>A	XP_005262214.2:p.Ser1973Asn
XM_006724666.4:c.6005G>A	XP_006724729.1:p.Ser2002Asn
XM_006724667.3:c.5843G>A	XP_006724730.1:p.Ser1948Asn
XM_017029601.2:c.6032G>A	XP_016885090.1:p.Ser2011Asn
XM_017029602.1:c.6002G>A	XP_016885091.1:p.Ser2001Asn
XM_017029603.1:c.5954G>A	XP_016885092.1:p.Ser1985Asn
XM_017029604.2:c.5921G>A	XP_016885093.1:p.Ser1974Asn
XM_017029605.1:c.5918G>A	XP_016885094.1:p.Ser1973Asn
XM_017029606.2:c.5891G>A	XP_016885095.1:p.Ser1964Asn
XM_017029607.2:c.5888G>A	XP_016885096.1:p.Ser1963Asn
XM_017029608.2:c.5840G>A	XP_016885097.1:p.Ser1947Asn
XM_017029609.1:c.5804G>A	XP_016885098.1:p.Ser1935Asn
XM_017029610.1:c.5801G>A	XP_016885099.1:p.Ser1934Asn
XM_017029611.1:c.5756G>A	XP_016885100.1:p.Ser1919Asn
XR_001755700.2:n.6421G>A
NM_138270.4:c.6008G>A	NP_612114.2:p.Ser2003Asn
NM_000489.6:c.6122G>A MANE Select	NP_000480.3:p.Ser2041Asn
NM_138270.5:c.6008G>A	NP_612114.2:p.Ser2003Asn