Canonical Allele Identifier: CA413707470

Gene: ATRX

Linked Data

• COSMIC: COSM5557848 ; COSM5557849
• MyVariant Identifiers: chrX:g.76776390T>A (hg19) ; chrX:g.77520912T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520912T>A , CM000685.2:g.77520912T>A	GRCh38
NC_000023.10:g.76776390T>A , CM000685.1:g.76776390T>A	GRCh37
NC_000023.9:g.76663046T>A	NCBI36
NG_008838.2:g.270310A>T
NG_008838.3:g.270358A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7076A>T MANE Select	ENSP00000362441.4:p.Lys2359Met
ENST00000675732.1:c.2174A>T	ENSP00000502598.1:p.Lys725Met
ENST00000373344.9:c.7076A>T	ENSP00000362441.4:p.Lys2359Met
ENST00000395603.7:c.6962A>T	ENSP00000378967.3:p.Lys2321Met
ENST00000480283.5:c.*6704A>T	ENSP00000480196.1:n.*6704A>T
ENST00000623706.3:n.5396A>T
ENST00000624766.1:n.307A>T
NM_000489.4:c.7076A>T	NP_000480.3:p.Lys2359Met
NM_138270.3:c.6962A>T	NP_612114.2:p.Lys2321Met
XM_005262153.3:c.7073A>T	XP_005262210.2:p.Lys2358Met
XM_005262154.3:c.6989A>T	XP_005262211.2:p.Lys2330Met
XM_005262155.3:c.6959A>T	XP_005262212.2:p.Lys2320Met
XM_005262156.3:c.6911A>T	XP_005262213.2:p.Lys2304Met
XM_005262157.3:c.6872A>T	XP_005262214.2:p.Lys2291Met
XM_006724666.2:c.6959A>T	XP_006724729.1:p.Lys2320Met
XM_006724667.2:c.6797A>T	XP_006724730.1:p.Lys2266Met
XR_938400.1:n.8668A>T
NM_000489.5:c.7076A>T	NP_000480.3:p.Lys2359Met
XM_005262153.5:c.7073A>T	XP_005262210.2:p.Lys2358Met
XM_005262154.5:c.6989A>T	XP_005262211.2:p.Lys2330Met
XM_005262155.4:c.6959A>T	XP_005262212.2:p.Lys2320Met
XM_005262156.4:c.6911A>T	XP_005262213.2:p.Lys2304Met
XM_005262157.5:c.6872A>T	XP_005262214.2:p.Lys2291Met
XM_006724666.4:c.6959A>T	XP_006724729.1:p.Lys2320Met
XM_006724667.3:c.6797A>T	XP_006724730.1:p.Lys2266Met
XM_017029601.2:c.6986A>T	XP_016885090.1:p.Lys2329Met
XM_017029602.1:c.6956A>T	XP_016885091.1:p.Lys2319Met
XM_017029603.1:c.6908A>T	XP_016885092.1:p.Lys2303Met
XM_017029604.2:c.6875A>T	XP_016885093.1:p.Lys2292Met
XM_017029605.1:c.6872A>T	XP_016885094.1:p.Lys2291Met
XM_017029606.2:c.6845A>T	XP_016885095.1:p.Lys2282Met
XM_017029607.2:c.6842A>T	XP_016885096.1:p.Lys2281Met
XM_017029608.2:c.6794A>T	XP_016885097.1:p.Lys2265Met
XM_017029609.1:c.6758A>T	XP_016885098.1:p.Lys2253Met
XM_017029610.1:c.6755A>T	XP_016885099.1:p.Lys2252Met
XM_017029611.1:c.6710A>T	XP_016885100.1:p.Lys2237Met
XR_001755700.2:n.7375A>T
NM_138270.4:c.6962A>T	NP_612114.2:p.Lys2321Met
NM_000489.6:c.7076A>T MANE Select	NP_000480.3:p.Lys2359Met
NM_138270.5:c.6962A>T	NP_612114.2:p.Lys2321Met