Canonical Allele Identifier: CA331569030

Gene: ATRX

Linked Data

• ClinVar Variation Id: 450381
• ClinVar RCV Id: RCV000520365 ; RCV001271463 ; RCV002497020 ; RCV002314911 ; RCV003139735
• dbSNP Id: rs929951326
• gnomAD v3: X-77683190-T-C
• gnomAD v4: X-77683190-T-C
• MyVariant Identifiers: chrX:g.76938682T>C (hg19) ; chrX:g.77683190T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683190T>C , CM000685.2:g.77683190T>C	GRCh38
NC_000023.10:g.76938682T>C , CM000685.1:g.76938682T>C	GRCh37
NC_000023.9:g.76825338T>C	NCBI36
NG_008838.2:g.108032A>G
NG_008838.3:g.108080A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.2066A>G MANE Select	ENSP00000362441.4:p.Gln689Arg
ENST00000373344.9:c.2066A>G	ENSP00000362441.4:p.Gln689Arg
ENST00000395603.7:c.1952A>G	ENSP00000378967.3:p.Gln651Arg
ENST00000480283.5:c.*1694A>G	ENSP00000480196.1:n.*1694A>G
ENST00000624032.3:c.1979A>G	ENSP00000485253.1:p.Gln660Arg
ENST00000624166.3:c.1862A>G	ENSP00000485103.1:p.Gln621Arg
NM_000489.4:c.2066A>G	NP_000480.3:p.Gln689Arg
NM_138270.3:c.1952A>G	NP_612114.2:p.Gln651Arg
XM_005262153.3:c.2063A>G	XP_005262210.2:p.Gln688Arg
XM_005262154.3:c.1979A>G	XP_005262211.2:p.Gln660Arg
XM_005262155.3:c.1949A>G	XP_005262212.2:p.Gln650Arg
XM_005262156.3:c.1901A>G	XP_005262213.2:p.Gln634Arg
XM_005262157.3:c.1862A>G	XP_005262214.2:p.Gln621Arg
XM_006724666.2:c.1949A>G	XP_006724729.1:p.Gln650Arg
XM_006724667.2:c.1787A>G	XP_006724730.1:p.Gln596Arg
XM_006724668.2:c.2066A>G	XP_006724731.1:p.Gln689Arg
XR_938400.1:n.2334A>G
NM_000489.5:c.2066A>G	NP_000480.3:p.Gln689Arg
XM_005262153.5:c.2063A>G	XP_005262210.2:p.Gln688Arg
XM_005262154.5:c.1979A>G	XP_005262211.2:p.Gln660Arg
XM_005262155.4:c.1949A>G	XP_005262212.2:p.Gln650Arg
XM_005262156.4:c.1901A>G	XP_005262213.2:p.Gln634Arg
XM_005262157.5:c.1862A>G	XP_005262214.2:p.Gln621Arg
XM_006724666.4:c.1949A>G	XP_006724729.1:p.Gln650Arg
XM_006724667.3:c.1787A>G	XP_006724730.1:p.Gln596Arg
XM_006724668.3:c.2066A>G	XP_006724731.1:p.Gln689Arg
XM_017029601.2:c.1976A>G	XP_016885090.1:p.Gln659Arg
XM_017029602.1:c.1946A>G	XP_016885091.1:p.Gln649Arg
XM_017029603.1:c.1898A>G	XP_016885092.1:p.Gln633Arg
XM_017029604.2:c.1865A>G	XP_016885093.1:p.Gln622Arg
XM_017029605.1:c.1862A>G	XP_016885094.1:p.Gln621Arg
XM_017029606.2:c.1835A>G	XP_016885095.1:p.Gln612Arg
XM_017029607.2:c.1832A>G	XP_016885096.1:p.Gln611Arg
XM_017029608.2:c.1784A>G	XP_016885097.1:p.Gln595Arg
XM_017029609.1:c.1748A>G	XP_016885098.1:p.Gln583Arg
XM_017029610.1:c.1745A>G	XP_016885099.1:p.Gln582Arg
XM_017029611.1:c.1700A>G	XP_016885100.1:p.Gln567Arg
XR_001755700.2:n.2291A>G
NM_138270.4:c.1952A>G	NP_612114.2:p.Gln651Arg
NM_000489.6:c.2066A>G MANE Select	NP_000480.3:p.Gln689Arg
NM_138270.5:c.1952A>G	NP_612114.2:p.Gln651Arg