Canonical Allele Identifier: CA517374179

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1595192
• ClinVar RCV Id: RCV002109438
• dbSNP Id: rs2147651510
• MyVariant Identifiers: chrX:g.76764042T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508564T>C , CM000685.2:g.77508564T>C	GRCh38
NC_000023.10:g.76764042T>C , CM000685.1:g.76764042T>C	GRCh37
NC_000023.9:g.76650698T>C	NCBI36
NG_008838.2:g.282658A>G
NG_008838.3:g.282706A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7266A>G MANE Select	ENSP00000362441.4:p.Gln2422=
ENST00000675732.1:c.2364A>G	ENSP00000502598.1:p.Gln788=
ENST00000373344.9:c.7266A>G	ENSP00000362441.4:p.Gln2422=
ENST00000395603.7:c.7152A>G	ENSP00000378967.3:p.Gln2384=
ENST00000480283.5:c.*6894A>G	ENSP00000480196.1:n.*6894A>G
ENST00000623706.3:n.5586A>G
ENST00000624766.1:n.497A>G
NM_000489.4:c.7266A>G	NP_000480.3:p.Gln2422=
NM_138270.3:c.7152A>G	NP_612114.2:p.Gln2384=
XM_005262153.3:c.7263A>G	XP_005262210.2:p.Gln2421=
XM_005262154.3:c.7179A>G	XP_005262211.2:p.Gln2393=
XM_005262155.3:c.7149A>G	XP_005262212.2:p.Gln2383=
XM_005262156.3:c.7101A>G	XP_005262213.2:p.Gln2367=
XM_005262157.3:c.7062A>G	XP_005262214.2:p.Gln2354=
XM_006724666.2:c.7149A>G	XP_006724729.1:p.Gln2383=
XM_006724667.2:c.6987A>G	XP_006724730.1:p.Gln2329=
XR_938400.1:n.8858A>G
NM_000489.5:c.7266A>G	NP_000480.3:p.Gln2422=
XM_005262153.5:c.7263A>G	XP_005262210.2:p.Gln2421=
XM_005262154.5:c.7179A>G	XP_005262211.2:p.Gln2393=
XM_005262155.4:c.7149A>G	XP_005262212.2:p.Gln2383=
XM_005262156.4:c.7101A>G	XP_005262213.2:p.Gln2367=
XM_005262157.5:c.7062A>G	XP_005262214.2:p.Gln2354=
XM_006724666.4:c.7149A>G	XP_006724729.1:p.Gln2383=
XM_006724667.3:c.6987A>G	XP_006724730.1:p.Gln2329=
XM_017029601.2:c.7176A>G	XP_016885090.1:p.Gln2392=
XM_017029602.1:c.7146A>G	XP_016885091.1:p.Gln2382=
XM_017029603.1:c.7098A>G	XP_016885092.1:p.Gln2366=
XM_017029604.2:c.7065A>G	XP_016885093.1:p.Gln2355=
XM_017029605.1:c.7062A>G	XP_016885094.1:p.Gln2354=
XM_017029606.2:c.7035A>G	XP_016885095.1:p.Gln2345=
XM_017029607.2:c.7032A>G	XP_016885096.1:p.Gln2344=
XM_017029608.2:c.6984A>G	XP_016885097.1:p.Gln2328=
XM_017029609.1:c.6948A>G	XP_016885098.1:p.Gln2316=
XM_017029610.1:c.6945A>G	XP_016885099.1:p.Gln2315=
XM_017029611.1:c.6900A>G	XP_016885100.1:p.Gln2300=
XR_001755700.2:n.7565A>G
NM_138270.4:c.7152A>G	NP_612114.2:p.Gln2384=
NM_000489.6:c.7266A>G MANE Select	NP_000480.3:p.Gln2422=
NM_138270.5:c.7152A>G	NP_612114.2:p.Gln2384=