Canonical Allele Identifier: CA517374368

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520800T>C , CM000685.2:g.77520800T>C	GRCh38
NC_000023.10:g.76776278T>C , CM000685.1:g.76776278T>C	GRCh37
NC_000023.9:g.76662934T>C	NCBI36
NG_008838.2:g.270422A>G
NG_008838.3:g.270470A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.7188A>G MANE Select	NP_000480.3:p.Thr2396=
ENST00000373344.11:c.7188A>G MANE Select	ENSP00000362441.4:p.Thr2396=
NM_000489.4:c.7188A>G	NP_000480.3:p.Thr2396=
NM_000489.5:c.7188A>G	NP_000480.3:p.Thr2396=
NM_138270.3:c.7074A>G	NP_612114.2:p.Thr2358=
NM_138270.4:c.7074A>G	NP_612114.2:p.Thr2358=
NM_138270.5:c.7074A>G	NP_612114.2:p.Thr2358=
ENST00000373344.9:c.7188A>G	ENSP00000362441.4:p.Thr2396=
ENST00000395603.7:c.7074A>G	ENSP00000378967.3:p.Thr2358=
ENST00000480283.5:c.*6816A>G	ENSP00000480196.1:n.*6816A>G
ENST00000623706.3:n.5508A>G
ENST00000624766.1:n.419A>G
ENST00000675732.1:c.2286A>G	ENSP00000502598.1:p.Thr762=
XM_005262153.3:c.7185A>G	XP_005262210.2:p.Thr2395=
XM_005262153.5:c.7185A>G	XP_005262210.2:p.Thr2395=
XM_005262154.3:c.7101A>G	XP_005262211.2:p.Thr2367=
XM_005262154.5:c.7101A>G	XP_005262211.2:p.Thr2367=
XM_005262155.3:c.7071A>G	XP_005262212.2:p.Thr2357=
XM_005262155.4:c.7071A>G	XP_005262212.2:p.Thr2357=
XM_005262156.3:c.7023A>G	XP_005262213.2:p.Thr2341=
XM_005262156.4:c.7023A>G	XP_005262213.2:p.Thr2341=
XM_005262157.3:c.6984A>G	XP_005262214.2:p.Thr2328=
XM_005262157.5:c.6984A>G	XP_005262214.2:p.Thr2328=
XM_006724666.2:c.7071A>G	XP_006724729.1:p.Thr2357=
XM_006724666.4:c.7071A>G	XP_006724729.1:p.Thr2357=
XM_006724667.2:c.6909A>G	XP_006724730.1:p.Thr2303=
XM_006724667.3:c.6909A>G	XP_006724730.1:p.Thr2303=
XM_017029601.2:c.7098A>G	XP_016885090.1:p.Thr2366=
XM_017029602.1:c.7068A>G	XP_016885091.1:p.Thr2356=
XM_017029603.1:c.7020A>G	XP_016885092.1:p.Thr2340=
XM_017029604.2:c.6987A>G	XP_016885093.1:p.Thr2329=
XM_017029605.1:c.6984A>G	XP_016885094.1:p.Thr2328=
XM_017029606.2:c.6957A>G	XP_016885095.1:p.Thr2319=
XM_017029607.2:c.6954A>G	XP_016885096.1:p.Thr2318=
XM_017029608.2:c.6906A>G	XP_016885097.1:p.Thr2302=
XM_017029609.1:c.6870A>G	XP_016885098.1:p.Thr2290=
XM_017029610.1:c.6867A>G	XP_016885099.1:p.Thr2289=
XM_017029611.1:c.6822A>G	XP_016885100.1:p.Thr2274=
XR_001755700.2:n.7487A>G
XR_938400.1:n.8780A>G