Canonical Allele Identifier: CA517374038

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77557532T>C , CM000685.2:g.77557532T>C	GRCh38
NC_000023.10:g.76813003T>C , CM000685.1:g.76813003T>C	GRCh37
NC_000023.9:g.76699659T>C	NCBI36
NG_008838.2:g.233690A>G
NG_008838.3:g.233738A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.6618A>G MANE Select	NP_000480.3:p.Glu2206=
ENST00000373344.11:c.6618A>G MANE Select	ENSP00000362441.4:p.Glu2206=
NM_000489.4:c.6618A>G	NP_000480.3:p.Glu2206=
NM_000489.5:c.6618A>G	NP_000480.3:p.Glu2206=
NM_138270.3:c.6504A>G	NP_612114.2:p.Glu2168=
NM_138270.4:c.6504A>G	NP_612114.2:p.Glu2168=
NM_138270.5:c.6504A>G	NP_612114.2:p.Glu2168=
ENST00000373344.9:c.6618A>G	ENSP00000362441.4:p.Glu2206=
ENST00000395603.7:c.6504A>G	ENSP00000378967.3:p.Glu2168=
ENST00000480283.5:c.*6246A>G	ENSP00000480196.1:n.*6246A>G
ENST00000623706.3:n.3688A>G
ENST00000675732.1:c.1716A>G	ENSP00000502598.1:p.Glu572=
XM_005262153.3:c.6615A>G	XP_005262210.2:p.Glu2205=
XM_005262153.5:c.6615A>G	XP_005262210.2:p.Glu2205=
XM_005262154.3:c.6531A>G	XP_005262211.2:p.Glu2177=
XM_005262154.5:c.6531A>G	XP_005262211.2:p.Glu2177=
XM_005262155.3:c.6501A>G	XP_005262212.2:p.Glu2167=
XM_005262155.4:c.6501A>G	XP_005262212.2:p.Glu2167=
XM_005262156.3:c.6453A>G	XP_005262213.2:p.Glu2151=
XM_005262156.4:c.6453A>G	XP_005262213.2:p.Glu2151=
XM_005262157.3:c.6414A>G	XP_005262214.2:p.Glu2138=
XM_005262157.5:c.6414A>G	XP_005262214.2:p.Glu2138=
XM_006724666.2:c.6501A>G	XP_006724729.1:p.Glu2167=
XM_006724666.4:c.6501A>G	XP_006724729.1:p.Glu2167=
XM_006724667.2:c.6339A>G	XP_006724730.1:p.Glu2113=
XM_006724667.3:c.6339A>G	XP_006724730.1:p.Glu2113=
XM_017029601.2:c.6528A>G	XP_016885090.1:p.Glu2176=
XM_017029602.1:c.6498A>G	XP_016885091.1:p.Glu2166=
XM_017029603.1:c.6450A>G	XP_016885092.1:p.Glu2150=
XM_017029604.2:c.6417A>G	XP_016885093.1:p.Glu2139=
XM_017029605.1:c.6414A>G	XP_016885094.1:p.Glu2138=
XM_017029606.2:c.6387A>G	XP_016885095.1:p.Glu2129=
XM_017029607.2:c.6384A>G	XP_016885096.1:p.Glu2128=
XM_017029608.2:c.6336A>G	XP_016885097.1:p.Glu2112=
XM_017029609.1:c.6300A>G	XP_016885098.1:p.Glu2100=
XM_017029610.1:c.6297A>G	XP_016885099.1:p.Glu2099=
XM_017029611.1:c.6252A>G	XP_016885100.1:p.Glu2084=
XR_001755700.2:n.6917A>G
XR_938400.1:n.6960A>G