Canonical Allele Identifier: CA413701171

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1180765
• ClinVar RCV Id: RCV001557178 ; RCV001814494 ; RCV001824991
• dbSNP Id: rs2148019913
• COSMIC: COSM4767393
• MyVariant Identifiers: chrX:g.76829788G>A (hg19) ; chrX:g.77574323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574323G>A , CM000685.2:g.77574323G>A	GRCh38
NC_000023.10:g.76829788G>A , CM000685.1:g.76829788G>A	GRCh37
NC_000023.9:g.76716444G>A	NCBI36
NG_008838.2:g.216899C>T
NG_008838.3:g.216947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6253C>T MANE Select	ENSP00000362441.4:p.Arg2085Cys
ENST00000636152.1:n.88C>T
ENST00000675732.1:c.1351C>T	ENSP00000502598.1:p.Arg451Cys
ENST00000373344.9:c.6253C>T	ENSP00000362441.4:p.Arg2085Cys
ENST00000395603.7:c.6139C>T	ENSP00000378967.3:p.Arg2047Cys
ENST00000480283.5:c.*5881C>T	ENSP00000480196.1:n.*5881C>T
ENST00000623316.1:c.737C>T
ENST00000623706.3:n.3323C>T
NM_000489.4:c.6253C>T	NP_000480.3:p.Arg2085Cys
NM_138270.3:c.6139C>T	NP_612114.2:p.Arg2047Cys
XM_005262153.3:c.6250C>T	XP_005262210.2:p.Arg2084Cys
XM_005262154.3:c.6166C>T	XP_005262211.2:p.Arg2056Cys
XM_005262155.3:c.6136C>T	XP_005262212.2:p.Arg2046Cys
XM_005262156.3:c.6088C>T	XP_005262213.2:p.Arg2030Cys
XM_005262157.3:c.6049C>T	XP_005262214.2:p.Arg2017Cys
XM_006724666.2:c.6136C>T	XP_006724729.1:p.Arg2046Cys
XM_006724667.2:c.5974C>T	XP_006724730.1:p.Arg1992Cys
XR_938400.1:n.6595C>T
NM_000489.5:c.6253C>T	NP_000480.3:p.Arg2085Cys
XM_005262153.5:c.6250C>T	XP_005262210.2:p.Arg2084Cys
XM_005262154.5:c.6166C>T	XP_005262211.2:p.Arg2056Cys
XM_005262155.4:c.6136C>T	XP_005262212.2:p.Arg2046Cys
XM_005262156.4:c.6088C>T	XP_005262213.2:p.Arg2030Cys
XM_005262157.5:c.6049C>T	XP_005262214.2:p.Arg2017Cys
XM_006724666.4:c.6136C>T	XP_006724729.1:p.Arg2046Cys
XM_006724667.3:c.5974C>T	XP_006724730.1:p.Arg1992Cys
XM_017029601.2:c.6163C>T	XP_016885090.1:p.Arg2055Cys
XM_017029602.1:c.6133C>T	XP_016885091.1:p.Arg2045Cys
XM_017029603.1:c.6085C>T	XP_016885092.1:p.Arg2029Cys
XM_017029604.2:c.6052C>T	XP_016885093.1:p.Arg2018Cys
XM_017029605.1:c.6049C>T	XP_016885094.1:p.Arg2017Cys
XM_017029606.2:c.6022C>T	XP_016885095.1:p.Arg2008Cys
XM_017029607.2:c.6019C>T	XP_016885096.1:p.Arg2007Cys
XM_017029608.2:c.5971C>T	XP_016885097.1:p.Arg1991Cys
XM_017029609.1:c.5935C>T	XP_016885098.1:p.Arg1979Cys
XM_017029610.1:c.5932C>T	XP_016885099.1:p.Arg1978Cys
XM_017029611.1:c.5887C>T	XP_016885100.1:p.Arg1963Cys
XR_001755700.2:n.6552C>T
NM_138270.4:c.6139C>T	NP_612114.2:p.Arg2047Cys
NM_000489.6:c.6253C>T MANE Select	NP_000480.3:p.Arg2085Cys
NM_138270.5:c.6139C>T	NP_612114.2:p.Arg2047Cys