Canonical Allele Identifier: CA10457379

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1636796
• ClinVar RCV Id: RCV002128635
• dbSNP Id: rs781835425
• ExAC: X:76763887 C / T
• gnomAD v2: X-76763887-C-T
• gnomAD v3: X-77508409-C-T
• gnomAD v4: X-77508409-C-T
• COSMIC: COSM3096915 ; COSM3096916
• MyVariant Identifiers: chrX:g.76763887C>T (hg19) ; chrX:g.77508409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508409C>T , CM000685.2:g.77508409C>T	GRCh38
NC_000023.10:g.76763887C>T , CM000685.1:g.76763887C>T	GRCh37
NC_000023.9:g.76650543C>T	NCBI36
NG_008838.2:g.282813G>A
NG_008838.3:g.282861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7421G>A MANE Select	ENSP00000362441.4:p.Arg2474His
ENST00000675732.1:c.2519G>A	ENSP00000502598.1:p.Arg840His
ENST00000373344.9:c.7421G>A	ENSP00000362441.4:p.Arg2474His
ENST00000395603.7:c.7307G>A	ENSP00000378967.3:p.Arg2436His
ENST00000480283.5:c.*7049G>A	ENSP00000480196.1:n.*7049G>A
ENST00000623706.3:n.5741G>A
NM_000489.4:c.7421G>A	NP_000480.3:p.Arg2474His
NM_138270.3:c.7307G>A	NP_612114.2:p.Arg2436His
XM_005262153.3:c.7418G>A	XP_005262210.2:p.Arg2473His
XM_005262154.3:c.7334G>A	XP_005262211.2:p.Arg2445His
XM_005262155.3:c.7304G>A	XP_005262212.2:p.Arg2435His
XM_005262156.3:c.7256G>A	XP_005262213.2:p.Arg2419His
XM_005262157.3:c.7217G>A	XP_005262214.2:p.Arg2406His
XM_006724666.2:c.7304G>A	XP_006724729.1:p.Arg2435His
XM_006724667.2:c.7142G>A	XP_006724730.1:p.Arg2381His
XR_938400.1:n.9013G>A
NM_000489.5:c.7421G>A	NP_000480.3:p.Arg2474His
XM_005262153.5:c.7418G>A	XP_005262210.2:p.Arg2473His
XM_005262154.5:c.7334G>A	XP_005262211.2:p.Arg2445His
XM_005262155.4:c.7304G>A	XP_005262212.2:p.Arg2435His
XM_005262156.4:c.7256G>A	XP_005262213.2:p.Arg2419His
XM_005262157.5:c.7217G>A	XP_005262214.2:p.Arg2406His
XM_006724666.4:c.7304G>A	XP_006724729.1:p.Arg2435His
XM_006724667.3:c.7142G>A	XP_006724730.1:p.Arg2381His
XM_017029601.2:c.7331G>A	XP_016885090.1:p.Arg2444His
XM_017029602.1:c.7301G>A	XP_016885091.1:p.Arg2434His
XM_017029603.1:c.7253G>A	XP_016885092.1:p.Arg2418His
XM_017029604.2:c.7220G>A	XP_016885093.1:p.Arg2407His
XM_017029605.1:c.7217G>A	XP_016885094.1:p.Arg2406His
XM_017029606.2:c.7190G>A	XP_016885095.1:p.Arg2397His
XM_017029607.2:c.7187G>A	XP_016885096.1:p.Arg2396His
XM_017029608.2:c.7139G>A	XP_016885097.1:p.Arg2380His
XM_017029609.1:c.7103G>A	XP_016885098.1:p.Arg2368His
XM_017029610.1:c.7100G>A	XP_016885099.1:p.Arg2367His
XM_017029611.1:c.7055G>A	XP_016885100.1:p.Arg2352His
XR_001755700.2:n.7720G>A
NM_138270.4:c.7307G>A	NP_612114.2:p.Arg2436His
NM_000489.6:c.7421G>A MANE Select	NP_000480.3:p.Arg2474His
NM_138270.5:c.7307G>A	NP_612114.2:p.Arg2436His