Canonical Allele Identifier: CA413704926

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7261C>T MANE Select	ENSP00000362441.4:p.Gln2421Ter
ENST00000675732.1:c.2359C>T	ENSP00000502598.1:p.Gln787Ter
ENST00000373344.9:c.7261C>T	ENSP00000362441.4:p.Gln2421Ter
ENST00000395603.7:c.7147C>T	ENSP00000378967.3:p.Gln2383Ter
ENST00000480283.5:c.*6889C>T	ENSP00000480196.1:n.*6889C>T
ENST00000623706.3:n.5581C>T
ENST00000624766.1:n.492C>T
NM_000489.4:c.7261C>T	NP_000480.3:p.Gln2421Ter
NM_138270.3:c.7147C>T	NP_612114.2:p.Gln2383Ter
XM_005262153.3:c.7258C>T	XP_005262210.2:p.Gln2420Ter
XM_005262154.3:c.7174C>T	XP_005262211.2:p.Gln2392Ter
XM_005262155.3:c.7144C>T	XP_005262212.2:p.Gln2382Ter
XM_005262156.3:c.7096C>T	XP_005262213.2:p.Gln2366Ter
XM_005262157.3:c.7057C>T	XP_005262214.2:p.Gln2353Ter
XM_006724666.2:c.7144C>T	XP_006724729.1:p.Gln2382Ter
XM_006724667.2:c.6982C>T	XP_006724730.1:p.Gln2328Ter
XR_938400.1:n.8853C>T
NM_000489.5:c.7261C>T	NP_000480.3:p.Gln2421Ter
XM_005262153.5:c.7258C>T	XP_005262210.2:p.Gln2420Ter
XM_005262154.5:c.7174C>T	XP_005262211.2:p.Gln2392Ter
XM_005262155.4:c.7144C>T	XP_005262212.2:p.Gln2382Ter
XM_005262156.4:c.7096C>T	XP_005262213.2:p.Gln2366Ter
XM_005262157.5:c.7057C>T	XP_005262214.2:p.Gln2353Ter
XM_006724666.4:c.7144C>T	XP_006724729.1:p.Gln2382Ter
XM_006724667.3:c.6982C>T	XP_006724730.1:p.Gln2328Ter
XM_017029601.2:c.7171C>T	XP_016885090.1:p.Gln2391Ter
XM_017029602.1:c.7141C>T	XP_016885091.1:p.Gln2381Ter
XM_017029603.1:c.7093C>T	XP_016885092.1:p.Gln2365Ter
XM_017029604.2:c.7060C>T	XP_016885093.1:p.Gln2354Ter
XM_017029605.1:c.7057C>T	XP_016885094.1:p.Gln2353Ter
XM_017029606.2:c.7030C>T	XP_016885095.1:p.Gln2344Ter
XM_017029607.2:c.7027C>T	XP_016885096.1:p.Gln2343Ter
XM_017029608.2:c.6979C>T	XP_016885097.1:p.Gln2327Ter
XM_017029609.1:c.6943C>T	XP_016885098.1:p.Gln2315Ter
XM_017029610.1:c.6940C>T	XP_016885099.1:p.Gln2314Ter
XM_017029611.1:c.6895C>T	XP_016885100.1:p.Gln2299Ter
XR_001755700.2:n.7560C>T
NM_138270.4:c.7147C>T	NP_612114.2:p.Gln2383Ter
NM_000489.6:c.7261C>T MANE Select	NP_000480.3:p.Gln2421Ter
NM_138270.5:c.7147C>T	NP_612114.2:p.Gln2383Ter