Canonical Allele Identifier: CA413704919

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764046T>C (hg19) ; chrX:g.77508568T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508568T>C , CM000685.2:g.77508568T>C	GRCh38
NC_000023.10:g.76764046T>C , CM000685.1:g.76764046T>C	GRCh37
NC_000023.9:g.76650702T>C	NCBI36
NG_008838.2:g.282654A>G
NG_008838.3:g.282702A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7262A>G MANE Select	ENSP00000362441.4:p.Gln2421Arg
ENST00000675732.1:c.2360A>G	ENSP00000502598.1:p.Gln787Arg
ENST00000373344.9:c.7262A>G	ENSP00000362441.4:p.Gln2421Arg
ENST00000395603.7:c.7148A>G	ENSP00000378967.3:p.Gln2383Arg
ENST00000480283.5:c.*6890A>G	ENSP00000480196.1:n.*6890A>G
ENST00000623706.3:n.5582A>G
ENST00000624766.1:n.493A>G
NM_000489.4:c.7262A>G	NP_000480.3:p.Gln2421Arg
NM_138270.3:c.7148A>G	NP_612114.2:p.Gln2383Arg
XM_005262153.3:c.7259A>G	XP_005262210.2:p.Gln2420Arg
XM_005262154.3:c.7175A>G	XP_005262211.2:p.Gln2392Arg
XM_005262155.3:c.7145A>G	XP_005262212.2:p.Gln2382Arg
XM_005262156.3:c.7097A>G	XP_005262213.2:p.Gln2366Arg
XM_005262157.3:c.7058A>G	XP_005262214.2:p.Gln2353Arg
XM_006724666.2:c.7145A>G	XP_006724729.1:p.Gln2382Arg
XM_006724667.2:c.6983A>G	XP_006724730.1:p.Gln2328Arg
XR_938400.1:n.8854A>G
NM_000489.5:c.7262A>G	NP_000480.3:p.Gln2421Arg
XM_005262153.5:c.7259A>G	XP_005262210.2:p.Gln2420Arg
XM_005262154.5:c.7175A>G	XP_005262211.2:p.Gln2392Arg
XM_005262155.4:c.7145A>G	XP_005262212.2:p.Gln2382Arg
XM_005262156.4:c.7097A>G	XP_005262213.2:p.Gln2366Arg
XM_005262157.5:c.7058A>G	XP_005262214.2:p.Gln2353Arg
XM_006724666.4:c.7145A>G	XP_006724729.1:p.Gln2382Arg
XM_006724667.3:c.6983A>G	XP_006724730.1:p.Gln2328Arg
XM_017029601.2:c.7172A>G	XP_016885090.1:p.Gln2391Arg
XM_017029602.1:c.7142A>G	XP_016885091.1:p.Gln2381Arg
XM_017029603.1:c.7094A>G	XP_016885092.1:p.Gln2365Arg
XM_017029604.2:c.7061A>G	XP_016885093.1:p.Gln2354Arg
XM_017029605.1:c.7058A>G	XP_016885094.1:p.Gln2353Arg
XM_017029606.2:c.7031A>G	XP_016885095.1:p.Gln2344Arg
XM_017029607.2:c.7028A>G	XP_016885096.1:p.Gln2343Arg
XM_017029608.2:c.6980A>G	XP_016885097.1:p.Gln2327Arg
XM_017029609.1:c.6944A>G	XP_016885098.1:p.Gln2315Arg
XM_017029610.1:c.6941A>G	XP_016885099.1:p.Gln2314Arg
XM_017029611.1:c.6896A>G	XP_016885100.1:p.Gln2299Arg
XR_001755700.2:n.7561A>G
NM_138270.4:c.7148A>G	NP_612114.2:p.Gln2383Arg
NM_000489.6:c.7262A>G MANE Select	NP_000480.3:p.Gln2421Arg
NM_138270.5:c.7148A>G	NP_612114.2:p.Gln2383Arg