Canonical Allele Identifier: CA16043291

Gene: ATRX

Linked Data

• ClinVar Variation Id: 372309
• ClinVar RCV Id: RCV000414248 ; RCV001775115 ; RCV003512036
• dbSNP Id: rs1057517707
• MyVariant Identifiers: chrX:g.76813089G>A (hg19) ; chrX:g.77557618G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77557618G>A , CM000685.2:g.77557618G>A	GRCh38
NC_000023.10:g.76813089G>A , CM000685.1:g.76813089G>A	GRCh37
NC_000023.9:g.76699745G>A	NCBI36
NG_008838.2:g.233604C>T
NG_008838.3:g.233652C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6532C>T MANE Select	ENSP00000362441.4:p.Arg2178Trp
ENST00000675732.1:c.1630C>T	ENSP00000502598.1:p.Arg544Trp
ENST00000373344.9:c.6532C>T	ENSP00000362441.4:p.Arg2178Trp
ENST00000395603.7:c.6418C>T	ENSP00000378967.3:p.Arg2140Trp
ENST00000480283.5:c.*6160C>T	ENSP00000480196.1:n.*6160C>T
ENST00000623706.3:n.3602C>T
NM_000489.4:c.6532C>T	NP_000480.3:p.Arg2178Trp
NM_138270.3:c.6418C>T	NP_612114.2:p.Arg2140Trp
XM_005262153.3:c.6529C>T	XP_005262210.2:p.Arg2177Trp
XM_005262154.3:c.6445C>T	XP_005262211.2:p.Arg2149Trp
XM_005262155.3:c.6415C>T	XP_005262212.2:p.Arg2139Trp
XM_005262156.3:c.6367C>T	XP_005262213.2:p.Arg2123Trp
XM_005262157.3:c.6328C>T	XP_005262214.2:p.Arg2110Trp
XM_006724666.2:c.6415C>T	XP_006724729.1:p.Arg2139Trp
XM_006724667.2:c.6253C>T	XP_006724730.1:p.Arg2085Trp
XR_938400.1:n.6874C>T
NM_000489.5:c.6532C>T	NP_000480.3:p.Arg2178Trp
XM_005262153.5:c.6529C>T	XP_005262210.2:p.Arg2177Trp
XM_005262154.5:c.6445C>T	XP_005262211.2:p.Arg2149Trp
XM_005262155.4:c.6415C>T	XP_005262212.2:p.Arg2139Trp
XM_005262156.4:c.6367C>T	XP_005262213.2:p.Arg2123Trp
XM_005262157.5:c.6328C>T	XP_005262214.2:p.Arg2110Trp
XM_006724666.4:c.6415C>T	XP_006724729.1:p.Arg2139Trp
XM_006724667.3:c.6253C>T	XP_006724730.1:p.Arg2085Trp
XM_017029601.2:c.6442C>T	XP_016885090.1:p.Arg2148Trp
XM_017029602.1:c.6412C>T	XP_016885091.1:p.Arg2138Trp
XM_017029603.1:c.6364C>T	XP_016885092.1:p.Arg2122Trp
XM_017029604.2:c.6331C>T	XP_016885093.1:p.Arg2111Trp
XM_017029605.1:c.6328C>T	XP_016885094.1:p.Arg2110Trp
XM_017029606.2:c.6301C>T	XP_016885095.1:p.Arg2101Trp
XM_017029607.2:c.6298C>T	XP_016885096.1:p.Arg2100Trp
XM_017029608.2:c.6250C>T	XP_016885097.1:p.Arg2084Trp
XM_017029609.1:c.6214C>T	XP_016885098.1:p.Arg2072Trp
XM_017029610.1:c.6211C>T	XP_016885099.1:p.Arg2071Trp
XM_017029611.1:c.6166C>T	XP_016885100.1:p.Arg2056Trp
XR_001755700.2:n.6831C>T
NM_138270.4:c.6418C>T	NP_612114.2:p.Arg2140Trp
NM_000489.6:c.6532C>T MANE Select	NP_000480.3:p.Arg2178Trp
NM_138270.5:c.6418C>T	NP_612114.2:p.Arg2140Trp