Canonical Allele Identifier: CA413704647

Gene: ATRX

Linked Data

• COSMIC: COSM1125387 ; COSM1125388
• MyVariant Identifiers: chrX:g.76764013G>A (hg19) ; chrX:g.77508535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508535G>A , CM000685.2:g.77508535G>A	GRCh38
NC_000023.10:g.76764013G>A , CM000685.1:g.76764013G>A	GRCh37
NC_000023.9:g.76650669G>A	NCBI36
NG_008838.2:g.282687C>T
NG_008838.3:g.282735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7295C>T MANE Select	ENSP00000362441.4:p.Thr2432Ile
ENST00000675732.1:c.2393C>T	ENSP00000502598.1:p.Thr798Ile
ENST00000373344.9:c.7295C>T	ENSP00000362441.4:p.Thr2432Ile
ENST00000395603.7:c.7181C>T	ENSP00000378967.3:p.Thr2394Ile
ENST00000480283.5:c.*6923C>T	ENSP00000480196.1:n.*6923C>T
ENST00000623706.3:n.5615C>T
ENST00000624766.1:n.526C>T
NM_000489.4:c.7295C>T	NP_000480.3:p.Thr2432Ile
NM_138270.3:c.7181C>T	NP_612114.2:p.Thr2394Ile
XM_005262153.3:c.7292C>T	XP_005262210.2:p.Thr2431Ile
XM_005262154.3:c.7208C>T	XP_005262211.2:p.Thr2403Ile
XM_005262155.3:c.7178C>T	XP_005262212.2:p.Thr2393Ile
XM_005262156.3:c.7130C>T	XP_005262213.2:p.Thr2377Ile
XM_005262157.3:c.7091C>T	XP_005262214.2:p.Thr2364Ile
XM_006724666.2:c.7178C>T	XP_006724729.1:p.Thr2393Ile
XM_006724667.2:c.7016C>T	XP_006724730.1:p.Thr2339Ile
XR_938400.1:n.8887C>T
NM_000489.5:c.7295C>T	NP_000480.3:p.Thr2432Ile
XM_005262153.5:c.7292C>T	XP_005262210.2:p.Thr2431Ile
XM_005262154.5:c.7208C>T	XP_005262211.2:p.Thr2403Ile
XM_005262155.4:c.7178C>T	XP_005262212.2:p.Thr2393Ile
XM_005262156.4:c.7130C>T	XP_005262213.2:p.Thr2377Ile
XM_005262157.5:c.7091C>T	XP_005262214.2:p.Thr2364Ile
XM_006724666.4:c.7178C>T	XP_006724729.1:p.Thr2393Ile
XM_006724667.3:c.7016C>T	XP_006724730.1:p.Thr2339Ile
XM_017029601.2:c.7205C>T	XP_016885090.1:p.Thr2402Ile
XM_017029602.1:c.7175C>T	XP_016885091.1:p.Thr2392Ile
XM_017029603.1:c.7127C>T	XP_016885092.1:p.Thr2376Ile
XM_017029604.2:c.7094C>T	XP_016885093.1:p.Thr2365Ile
XM_017029605.1:c.7091C>T	XP_016885094.1:p.Thr2364Ile
XM_017029606.2:c.7064C>T	XP_016885095.1:p.Thr2355Ile
XM_017029607.2:c.7061C>T	XP_016885096.1:p.Thr2354Ile
XM_017029608.2:c.7013C>T	XP_016885097.1:p.Thr2338Ile
XM_017029609.1:c.6977C>T	XP_016885098.1:p.Thr2326Ile
XM_017029610.1:c.6974C>T	XP_016885099.1:p.Thr2325Ile
XM_017029611.1:c.6929C>T	XP_016885100.1:p.Thr2310Ile
XR_001755700.2:n.7594C>T
NM_138270.4:c.7181C>T	NP_612114.2:p.Thr2394Ile
NM_000489.6:c.7295C>T MANE Select	NP_000480.3:p.Thr2432Ile
NM_138270.5:c.7181C>T	NP_612114.2:p.Thr2394Ile