Canonical Allele Identifier: CA413699447

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77558842G>A , CM000685.2:g.77558842G>A	GRCh38
NC_000023.10:g.76814313G>A , CM000685.1:g.76814313G>A	GRCh37
NC_000023.9:g.76700969G>A	NCBI36
NG_008838.2:g.232380C>T
NG_008838.3:g.232428C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.6331C>T MANE Select	NP_000480.3:p.Arg2111Ter
ENST00000373344.11:c.6331C>T MANE Select	ENSP00000362441.4:p.Arg2111Ter
NM_000489.4:c.6331C>T	NP_000480.3:p.Arg2111Ter
NM_000489.5:c.6331C>T	NP_000480.3:p.Arg2111Ter
NM_138270.3:c.6217C>T	NP_612114.2:p.Arg2073Ter
NM_138270.4:c.6217C>T	NP_612114.2:p.Arg2073Ter
NM_138270.5:c.6217C>T	NP_612114.2:p.Arg2073Ter
ENST00000373344.9:c.6331C>T	ENSP00000362441.4:p.Arg2111Ter
ENST00000395603.7:c.6217C>T	ENSP00000378967.3:p.Arg2073Ter
ENST00000480283.5:c.*5959C>T	ENSP00000480196.1:n.*5959C>T
ENST00000623706.3:n.3401C>T
ENST00000637175.1:n.67C>T
ENST00000675732.1:c.1429C>T	ENSP00000502598.1:p.Arg477Ter
XM_005262153.3:c.6328C>T	XP_005262210.2:p.Arg2110Ter
XM_005262153.5:c.6328C>T	XP_005262210.2:p.Arg2110Ter
XM_005262154.3:c.6244C>T	XP_005262211.2:p.Arg2082Ter
XM_005262154.5:c.6244C>T	XP_005262211.2:p.Arg2082Ter
XM_005262155.3:c.6214C>T	XP_005262212.2:p.Arg2072Ter
XM_005262155.4:c.6214C>T	XP_005262212.2:p.Arg2072Ter
XM_005262156.3:c.6166C>T	XP_005262213.2:p.Arg2056Ter
XM_005262156.4:c.6166C>T	XP_005262213.2:p.Arg2056Ter
XM_005262157.3:c.6127C>T	XP_005262214.2:p.Arg2043Ter
XM_005262157.5:c.6127C>T	XP_005262214.2:p.Arg2043Ter
XM_006724666.2:c.6214C>T	XP_006724729.1:p.Arg2072Ter
XM_006724666.4:c.6214C>T	XP_006724729.1:p.Arg2072Ter
XM_006724667.2:c.6052C>T	XP_006724730.1:p.Arg2018Ter
XM_006724667.3:c.6052C>T	XP_006724730.1:p.Arg2018Ter
XM_017029601.2:c.6241C>T	XP_016885090.1:p.Arg2081Ter
XM_017029602.1:c.6211C>T	XP_016885091.1:p.Arg2071Ter
XM_017029603.1:c.6163C>T	XP_016885092.1:p.Arg2055Ter
XM_017029604.2:c.6130C>T	XP_016885093.1:p.Arg2044Ter
XM_017029605.1:c.6127C>T	XP_016885094.1:p.Arg2043Ter
XM_017029606.2:c.6100C>T	XP_016885095.1:p.Arg2034Ter
XM_017029607.2:c.6097C>T	XP_016885096.1:p.Arg2033Ter
XM_017029608.2:c.6049C>T	XP_016885097.1:p.Arg2017Ter
XM_017029609.1:c.6013C>T	XP_016885098.1:p.Arg2005Ter
XM_017029610.1:c.6010C>T	XP_016885099.1:p.Arg2004Ter
XM_017029611.1:c.5965C>T	XP_016885100.1:p.Arg1989Ter
XR_001755700.2:n.6630C>T
XR_938400.1:n.6673C>T