Canonical Allele Identifier: CA413704909

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764044G>T (hg19) ; chrX:g.77508566G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508566G>T , CM000685.2:g.77508566G>T	GRCh38
NC_000023.10:g.76764044G>T , CM000685.1:g.76764044G>T	GRCh37
NC_000023.9:g.76650700G>T	NCBI36
NG_008838.2:g.282656C>A
NG_008838.3:g.282704C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7264C>A MANE Select	ENSP00000362441.4:p.Gln2422Lys
ENST00000675732.1:c.2362C>A	ENSP00000502598.1:p.Gln788Lys
ENST00000373344.9:c.7264C>A	ENSP00000362441.4:p.Gln2422Lys
ENST00000395603.7:c.7150C>A	ENSP00000378967.3:p.Gln2384Lys
ENST00000480283.5:c.*6892C>A	ENSP00000480196.1:n.*6892C>A
ENST00000623706.3:n.5584C>A
ENST00000624766.1:n.495C>A
NM_000489.4:c.7264C>A	NP_000480.3:p.Gln2422Lys
NM_138270.3:c.7150C>A	NP_612114.2:p.Gln2384Lys
XM_005262153.3:c.7261C>A	XP_005262210.2:p.Gln2421Lys
XM_005262154.3:c.7177C>A	XP_005262211.2:p.Gln2393Lys
XM_005262155.3:c.7147C>A	XP_005262212.2:p.Gln2383Lys
XM_005262156.3:c.7099C>A	XP_005262213.2:p.Gln2367Lys
XM_005262157.3:c.7060C>A	XP_005262214.2:p.Gln2354Lys
XM_006724666.2:c.7147C>A	XP_006724729.1:p.Gln2383Lys
XM_006724667.2:c.6985C>A	XP_006724730.1:p.Gln2329Lys
XR_938400.1:n.8856C>A
NM_000489.5:c.7264C>A	NP_000480.3:p.Gln2422Lys
XM_005262153.5:c.7261C>A	XP_005262210.2:p.Gln2421Lys
XM_005262154.5:c.7177C>A	XP_005262211.2:p.Gln2393Lys
XM_005262155.4:c.7147C>A	XP_005262212.2:p.Gln2383Lys
XM_005262156.4:c.7099C>A	XP_005262213.2:p.Gln2367Lys
XM_005262157.5:c.7060C>A	XP_005262214.2:p.Gln2354Lys
XM_006724666.4:c.7147C>A	XP_006724729.1:p.Gln2383Lys
XM_006724667.3:c.6985C>A	XP_006724730.1:p.Gln2329Lys
XM_017029601.2:c.7174C>A	XP_016885090.1:p.Gln2392Lys
XM_017029602.1:c.7144C>A	XP_016885091.1:p.Gln2382Lys
XM_017029603.1:c.7096C>A	XP_016885092.1:p.Gln2366Lys
XM_017029604.2:c.7063C>A	XP_016885093.1:p.Gln2355Lys
XM_017029605.1:c.7060C>A	XP_016885094.1:p.Gln2354Lys
XM_017029606.2:c.7033C>A	XP_016885095.1:p.Gln2345Lys
XM_017029607.2:c.7030C>A	XP_016885096.1:p.Gln2344Lys
XM_017029608.2:c.6982C>A	XP_016885097.1:p.Gln2328Lys
XM_017029609.1:c.6946C>A	XP_016885098.1:p.Gln2316Lys
XM_017029610.1:c.6943C>A	XP_016885099.1:p.Gln2315Lys
XM_017029611.1:c.6898C>A	XP_016885100.1:p.Gln2300Lys
XR_001755700.2:n.7563C>A
NM_138270.4:c.7150C>A	NP_612114.2:p.Gln2384Lys
NM_000489.6:c.7264C>A MANE Select	NP_000480.3:p.Gln2422Lys
NM_138270.5:c.7150C>A	NP_612114.2:p.Gln2384Lys