Canonical Allele Identifier: CA413700878

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829727T>G (hg19) ; chrX:g.77574262T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574262T>G , CM000685.2:g.77574262T>G	GRCh38
NC_000023.10:g.76829727T>G , CM000685.1:g.76829727T>G	GRCh37
NC_000023.9:g.76716383T>G	NCBI36
NG_008838.2:g.216960A>C
NG_008838.3:g.217008A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6314A>C MANE Select	ENSP00000362441.4:p.Glu2105Ala
ENST00000675732.1:c.1412A>C	ENSP00000502598.1:p.Glu471Ala
ENST00000373344.9:c.6314A>C	ENSP00000362441.4:p.Glu2105Ala
ENST00000395603.7:c.6200A>C	ENSP00000378967.3:p.Glu2067Ala
ENST00000480283.5:c.*5942A>C	ENSP00000480196.1:n.*5942A>C
ENST00000623316.1:c.798A>C
ENST00000623706.3:n.3384A>C
NM_000489.4:c.6314A>C	NP_000480.3:p.Glu2105Ala
NM_138270.3:c.6200A>C	NP_612114.2:p.Glu2067Ala
XM_005262153.3:c.6311A>C	XP_005262210.2:p.Glu2104Ala
XM_005262154.3:c.6227A>C	XP_005262211.2:p.Glu2076Ala
XM_005262155.3:c.6197A>C	XP_005262212.2:p.Glu2066Ala
XM_005262156.3:c.6149A>C	XP_005262213.2:p.Glu2050Ala
XM_005262157.3:c.6110A>C	XP_005262214.2:p.Glu2037Ala
XM_006724666.2:c.6197A>C	XP_006724729.1:p.Glu2066Ala
XM_006724667.2:c.6035A>C	XP_006724730.1:p.Glu2012Ala
XR_938400.1:n.6656A>C
NM_000489.5:c.6314A>C	NP_000480.3:p.Glu2105Ala
XM_005262153.5:c.6311A>C	XP_005262210.2:p.Glu2104Ala
XM_005262154.5:c.6227A>C	XP_005262211.2:p.Glu2076Ala
XM_005262155.4:c.6197A>C	XP_005262212.2:p.Glu2066Ala
XM_005262156.4:c.6149A>C	XP_005262213.2:p.Glu2050Ala
XM_005262157.5:c.6110A>C	XP_005262214.2:p.Glu2037Ala
XM_006724666.4:c.6197A>C	XP_006724729.1:p.Glu2066Ala
XM_006724667.3:c.6035A>C	XP_006724730.1:p.Glu2012Ala
XM_017029601.2:c.6224A>C	XP_016885090.1:p.Glu2075Ala
XM_017029602.1:c.6194A>C	XP_016885091.1:p.Glu2065Ala
XM_017029603.1:c.6146A>C	XP_016885092.1:p.Glu2049Ala
XM_017029604.2:c.6113A>C	XP_016885093.1:p.Glu2038Ala
XM_017029605.1:c.6110A>C	XP_016885094.1:p.Glu2037Ala
XM_017029606.2:c.6083A>C	XP_016885095.1:p.Glu2028Ala
XM_017029607.2:c.6080A>C	XP_016885096.1:p.Glu2027Ala
XM_017029608.2:c.6032A>C	XP_016885097.1:p.Glu2011Ala
XM_017029609.1:c.5996A>C	XP_016885098.1:p.Glu1999Ala
XM_017029610.1:c.5993A>C	XP_016885099.1:p.Glu1998Ala
XM_017029611.1:c.5948A>C	XP_016885100.1:p.Glu1983Ala
XR_001755700.2:n.6613A>C
NM_138270.4:c.6200A>C	NP_612114.2:p.Glu2067Ala
NM_000489.6:c.6314A>C MANE Select	NP_000480.3:p.Glu2105Ala
NM_138270.5:c.6200A>C	NP_612114.2:p.Glu2067Ala