Canonical Allele Identifier: CA413701139

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829780A>T (hg19) ; chrX:g.77574315A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574315A>T , CM000685.2:g.77574315A>T	GRCh38
NC_000023.10:g.76829780A>T , CM000685.1:g.76829780A>T	GRCh37
NC_000023.9:g.76716436A>T	NCBI36
NG_008838.2:g.216907T>A
NG_008838.3:g.216955T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6261T>A MANE Select	ENSP00000362441.4:p.Asp2087Glu
ENST00000636152.1:n.96T>A
ENST00000675732.1:c.1359T>A	ENSP00000502598.1:p.Asp453Glu
ENST00000373344.9:c.6261T>A	ENSP00000362441.4:p.Asp2087Glu
ENST00000395603.7:c.6147T>A	ENSP00000378967.3:p.Asp2049Glu
ENST00000480283.5:c.*5889T>A	ENSP00000480196.1:n.*5889T>A
ENST00000623316.1:c.745T>A
ENST00000623706.3:n.3331T>A
NM_000489.4:c.6261T>A	NP_000480.3:p.Asp2087Glu
NM_138270.3:c.6147T>A	NP_612114.2:p.Asp2049Glu
XM_005262153.3:c.6258T>A	XP_005262210.2:p.Asp2086Glu
XM_005262154.3:c.6174T>A	XP_005262211.2:p.Asp2058Glu
XM_005262155.3:c.6144T>A	XP_005262212.2:p.Asp2048Glu
XM_005262156.3:c.6096T>A	XP_005262213.2:p.Asp2032Glu
XM_005262157.3:c.6057T>A	XP_005262214.2:p.Asp2019Glu
XM_006724666.2:c.6144T>A	XP_006724729.1:p.Asp2048Glu
XM_006724667.2:c.5982T>A	XP_006724730.1:p.Asp1994Glu
XR_938400.1:n.6603T>A
NM_000489.5:c.6261T>A	NP_000480.3:p.Asp2087Glu
XM_005262153.5:c.6258T>A	XP_005262210.2:p.Asp2086Glu
XM_005262154.5:c.6174T>A	XP_005262211.2:p.Asp2058Glu
XM_005262155.4:c.6144T>A	XP_005262212.2:p.Asp2048Glu
XM_005262156.4:c.6096T>A	XP_005262213.2:p.Asp2032Glu
XM_005262157.5:c.6057T>A	XP_005262214.2:p.Asp2019Glu
XM_006724666.4:c.6144T>A	XP_006724729.1:p.Asp2048Glu
XM_006724667.3:c.5982T>A	XP_006724730.1:p.Asp1994Glu
XM_017029601.2:c.6171T>A	XP_016885090.1:p.Asp2057Glu
XM_017029602.1:c.6141T>A	XP_016885091.1:p.Asp2047Glu
XM_017029603.1:c.6093T>A	XP_016885092.1:p.Asp2031Glu
XM_017029604.2:c.6060T>A	XP_016885093.1:p.Asp2020Glu
XM_017029605.1:c.6057T>A	XP_016885094.1:p.Asp2019Glu
XM_017029606.2:c.6030T>A	XP_016885095.1:p.Asp2010Glu
XM_017029607.2:c.6027T>A	XP_016885096.1:p.Asp2009Glu
XM_017029608.2:c.5979T>A	XP_016885097.1:p.Asp1993Glu
XM_017029609.1:c.5943T>A	XP_016885098.1:p.Asp1981Glu
XM_017029610.1:c.5940T>A	XP_016885099.1:p.Asp1980Glu
XM_017029611.1:c.5895T>A	XP_016885100.1:p.Asp1965Glu
XR_001755700.2:n.6560T>A
NM_138270.4:c.6147T>A	NP_612114.2:p.Asp2049Glu
NM_000489.6:c.6261T>A MANE Select	NP_000480.3:p.Asp2087Glu
NM_138270.5:c.6147T>A	NP_612114.2:p.Asp2049Glu