Canonical Allele Identifier: CA10458124

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683132T>C , CM000685.2:g.77683132T>C	GRCh38
NC_000023.10:g.76938624T>C , CM000685.1:g.76938624T>C	GRCh37
NC_000023.9:g.76825280T>C	NCBI36
NG_008838.2:g.108090A>G
NG_008838.3:g.108138A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2124A>G MANE Select	NP_000480.3:p.Ile708Met
ENST00000373344.11:c.2124A>G MANE Select	ENSP00000362441.4:p.Ile708Met
NM_000489.4:c.2124A>G	NP_000480.3:p.Ile708Met
NM_000489.5:c.2124A>G	NP_000480.3:p.Ile708Met
NM_138270.3:c.2010A>G	NP_612114.2:p.Ile670Met
NM_138270.4:c.2010A>G	NP_612114.2:p.Ile670Met
NM_138270.5:c.2010A>G	NP_612114.2:p.Ile670Met
ENST00000373344.9:c.2124A>G	ENSP00000362441.4:p.Ile708Met
ENST00000395603.7:c.2010A>G	ENSP00000378967.3:p.Ile670Met
ENST00000480283.5:c.*1752A>G	ENSP00000480196.1:n.*1752A>G
ENST00000624032.3:c.2037A>G	ENSP00000485253.1:p.Ile679Met
ENST00000624166.3:c.1920A>G	ENSP00000485103.1:p.Ile640Met
XM_005262153.3:c.2121A>G	XP_005262210.2:p.Ile707Met
XM_005262153.5:c.2121A>G	XP_005262210.2:p.Ile707Met
XM_005262154.3:c.2037A>G	XP_005262211.2:p.Ile679Met
XM_005262154.5:c.2037A>G	XP_005262211.2:p.Ile679Met
XM_005262155.3:c.2007A>G	XP_005262212.2:p.Ile669Met
XM_005262155.4:c.2007A>G	XP_005262212.2:p.Ile669Met
XM_005262156.3:c.1959A>G	XP_005262213.2:p.Ile653Met
XM_005262156.4:c.1959A>G	XP_005262213.2:p.Ile653Met
XM_005262157.3:c.1920A>G	XP_005262214.2:p.Ile640Met
XM_005262157.5:c.1920A>G	XP_005262214.2:p.Ile640Met
XM_006724666.2:c.2007A>G	XP_006724729.1:p.Ile669Met
XM_006724666.4:c.2007A>G	XP_006724729.1:p.Ile669Met
XM_006724667.2:c.1845A>G	XP_006724730.1:p.Ile615Met
XM_006724667.3:c.1845A>G	XP_006724730.1:p.Ile615Met
XM_006724668.2:c.2124A>G	XP_006724731.1:p.Ile708Met
XM_006724668.3:c.2124A>G	XP_006724731.1:p.Ile708Met
XM_017029601.2:c.2034A>G	XP_016885090.1:p.Ile678Met
XM_017029602.1:c.2004A>G	XP_016885091.1:p.Ile668Met
XM_017029603.1:c.1956A>G	XP_016885092.1:p.Ile652Met
XM_017029604.2:c.1923A>G	XP_016885093.1:p.Ile641Met
XM_017029605.1:c.1920A>G	XP_016885094.1:p.Ile640Met
XM_017029606.2:c.1893A>G	XP_016885095.1:p.Ile631Met
XM_017029607.2:c.1890A>G	XP_016885096.1:p.Ile630Met
XM_017029608.2:c.1842A>G	XP_016885097.1:p.Ile614Met
XM_017029609.1:c.1806A>G	XP_016885098.1:p.Ile602Met
XM_017029610.1:c.1803A>G	XP_016885099.1:p.Ile601Met
XM_017029611.1:c.1758A>G	XP_016885100.1:p.Ile586Met
XR_001755700.2:n.2349A>G
XR_938400.1:n.2392A>G