Canonical Allele Identifier: CA413704932

Gene: ATRX

Linked Data

• dbSNP Id: rs2147651671
• MyVariant Identifiers: chrX:g.76764047G>T (hg19) ; chrX:g.77508569G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508569G>T , CM000685.2:g.77508569G>T	GRCh38
NC_000023.10:g.76764047G>T , CM000685.1:g.76764047G>T	GRCh37
NC_000023.9:g.76650703G>T	NCBI36
NG_008838.2:g.282653C>A
NG_008838.3:g.282701C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7261C>A MANE Select	ENSP00000362441.4:p.Gln2421Lys
ENST00000675732.1:c.2359C>A	ENSP00000502598.1:p.Gln787Lys
ENST00000373344.9:c.7261C>A	ENSP00000362441.4:p.Gln2421Lys
ENST00000395603.7:c.7147C>A	ENSP00000378967.3:p.Gln2383Lys
ENST00000480283.5:c.*6889C>A	ENSP00000480196.1:n.*6889C>A
ENST00000623706.3:n.5581C>A
ENST00000624766.1:n.492C>A
NM_000489.4:c.7261C>A	NP_000480.3:p.Gln2421Lys
NM_138270.3:c.7147C>A	NP_612114.2:p.Gln2383Lys
XM_005262153.3:c.7258C>A	XP_005262210.2:p.Gln2420Lys
XM_005262154.3:c.7174C>A	XP_005262211.2:p.Gln2392Lys
XM_005262155.3:c.7144C>A	XP_005262212.2:p.Gln2382Lys
XM_005262156.3:c.7096C>A	XP_005262213.2:p.Gln2366Lys
XM_005262157.3:c.7057C>A	XP_005262214.2:p.Gln2353Lys
XM_006724666.2:c.7144C>A	XP_006724729.1:p.Gln2382Lys
XM_006724667.2:c.6982C>A	XP_006724730.1:p.Gln2328Lys
XR_938400.1:n.8853C>A
NM_000489.5:c.7261C>A	NP_000480.3:p.Gln2421Lys
XM_005262153.5:c.7258C>A	XP_005262210.2:p.Gln2420Lys
XM_005262154.5:c.7174C>A	XP_005262211.2:p.Gln2392Lys
XM_005262155.4:c.7144C>A	XP_005262212.2:p.Gln2382Lys
XM_005262156.4:c.7096C>A	XP_005262213.2:p.Gln2366Lys
XM_005262157.5:c.7057C>A	XP_005262214.2:p.Gln2353Lys
XM_006724666.4:c.7144C>A	XP_006724729.1:p.Gln2382Lys
XM_006724667.3:c.6982C>A	XP_006724730.1:p.Gln2328Lys
XM_017029601.2:c.7171C>A	XP_016885090.1:p.Gln2391Lys
XM_017029602.1:c.7141C>A	XP_016885091.1:p.Gln2381Lys
XM_017029603.1:c.7093C>A	XP_016885092.1:p.Gln2365Lys
XM_017029604.2:c.7060C>A	XP_016885093.1:p.Gln2354Lys
XM_017029605.1:c.7057C>A	XP_016885094.1:p.Gln2353Lys
XM_017029606.2:c.7030C>A	XP_016885095.1:p.Gln2344Lys
XM_017029607.2:c.7027C>A	XP_016885096.1:p.Gln2343Lys
XM_017029608.2:c.6979C>A	XP_016885097.1:p.Gln2327Lys
XM_017029609.1:c.6943C>A	XP_016885098.1:p.Gln2315Lys
XM_017029610.1:c.6940C>A	XP_016885099.1:p.Gln2314Lys
XM_017029611.1:c.6895C>A	XP_016885100.1:p.Gln2299Lys
XR_001755700.2:n.7560C>A
NM_138270.4:c.7147C>A	NP_612114.2:p.Gln2383Lys
NM_000489.6:c.7261C>A MANE Select	NP_000480.3:p.Gln2421Lys
NM_138270.5:c.7147C>A	NP_612114.2:p.Gln2383Lys