Canonical Allele Identifier: CA413704907

Gene: ATRX

Linked Data

• dbSNP Id: rs2147651589
• MyVariant Identifiers: chrX:g.76764044G>C (hg19) ; chrX:g.77508566G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7264C>G MANE Select	ENSP00000362441.4:p.Gln2422Glu
ENST00000675732.1:c.2362C>G	ENSP00000502598.1:p.Gln788Glu
ENST00000373344.9:c.7264C>G	ENSP00000362441.4:p.Gln2422Glu
ENST00000395603.7:c.7150C>G	ENSP00000378967.3:p.Gln2384Glu
ENST00000480283.5:c.*6892C>G	ENSP00000480196.1:n.*6892C>G
ENST00000623706.3:n.5584C>G
ENST00000624766.1:n.495C>G
NM_000489.4:c.7264C>G	NP_000480.3:p.Gln2422Glu
NM_138270.3:c.7150C>G	NP_612114.2:p.Gln2384Glu
XM_005262153.3:c.7261C>G	XP_005262210.2:p.Gln2421Glu
XM_005262154.3:c.7177C>G	XP_005262211.2:p.Gln2393Glu
XM_005262155.3:c.7147C>G	XP_005262212.2:p.Gln2383Glu
XM_005262156.3:c.7099C>G	XP_005262213.2:p.Gln2367Glu
XM_005262157.3:c.7060C>G	XP_005262214.2:p.Gln2354Glu
XM_006724666.2:c.7147C>G	XP_006724729.1:p.Gln2383Glu
XM_006724667.2:c.6985C>G	XP_006724730.1:p.Gln2329Glu
XR_938400.1:n.8856C>G
NM_000489.5:c.7264C>G	NP_000480.3:p.Gln2422Glu
XM_005262153.5:c.7261C>G	XP_005262210.2:p.Gln2421Glu
XM_005262154.5:c.7177C>G	XP_005262211.2:p.Gln2393Glu
XM_005262155.4:c.7147C>G	XP_005262212.2:p.Gln2383Glu
XM_005262156.4:c.7099C>G	XP_005262213.2:p.Gln2367Glu
XM_005262157.5:c.7060C>G	XP_005262214.2:p.Gln2354Glu
XM_006724666.4:c.7147C>G	XP_006724729.1:p.Gln2383Glu
XM_006724667.3:c.6985C>G	XP_006724730.1:p.Gln2329Glu
XM_017029601.2:c.7174C>G	XP_016885090.1:p.Gln2392Glu
XM_017029602.1:c.7144C>G	XP_016885091.1:p.Gln2382Glu
XM_017029603.1:c.7096C>G	XP_016885092.1:p.Gln2366Glu
XM_017029604.2:c.7063C>G	XP_016885093.1:p.Gln2355Glu
XM_017029605.1:c.7060C>G	XP_016885094.1:p.Gln2354Glu
XM_017029606.2:c.7033C>G	XP_016885095.1:p.Gln2345Glu
XM_017029607.2:c.7030C>G	XP_016885096.1:p.Gln2344Glu
XM_017029608.2:c.6982C>G	XP_016885097.1:p.Gln2328Glu
XM_017029609.1:c.6946C>G	XP_016885098.1:p.Gln2316Glu
XM_017029610.1:c.6943C>G	XP_016885099.1:p.Gln2315Glu
XM_017029611.1:c.6898C>G	XP_016885100.1:p.Gln2300Glu
XR_001755700.2:n.7563C>G
NM_138270.4:c.7150C>G	NP_612114.2:p.Gln2384Glu
NM_000489.6:c.7264C>G MANE Select	NP_000480.3:p.Gln2422Glu
NM_138270.5:c.7150C>G	NP_612114.2:p.Gln2384Glu