Canonical Allele Identifier: CA413710513

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77656573G>A , CM000685.2:g.77656573G>A	GRCh38
NC_000023.10:g.76912063G>A , CM000685.1:g.76912063G>A	GRCh37
NC_000023.9:g.76798719G>A	NCBI36
NG_008838.2:g.134649C>T
NG_008838.3:g.134697C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.4201C>T MANE Select	NP_000480.3:p.Arg1401Trp
ENST00000373344.11:c.4201C>T MANE Select	ENSP00000362441.4:p.Arg1401Trp
NM_000489.4:c.4201C>T	NP_000480.3:p.Arg1401Trp
NM_000489.5:c.4201C>T	NP_000480.3:p.Arg1401Trp
NM_138270.3:c.4087C>T	NP_612114.2:p.Arg1363Trp
NM_138270.4:c.4087C>T	NP_612114.2:p.Arg1363Trp
NM_138270.5:c.4087C>T	NP_612114.2:p.Arg1363Trp
ENST00000373344.9:c.4201C>T	ENSP00000362441.4:p.Arg1401Trp
ENST00000395603.7:c.4087C>T	ENSP00000378967.3:p.Arg1363Trp
ENST00000480283.5:c.*3829C>T	ENSP00000480196.1:n.*3829C>T
ENST00000624166.3:c.3997C>T	ENSP00000485103.1:p.Arg1333Trp
XM_005262153.3:c.4198C>T	XP_005262210.2:p.Arg1400Trp
XM_005262153.5:c.4198C>T	XP_005262210.2:p.Arg1400Trp
XM_005262154.3:c.4114C>T	XP_005262211.2:p.Arg1372Trp
XM_005262154.5:c.4114C>T	XP_005262211.2:p.Arg1372Trp
XM_005262155.3:c.4084C>T	XP_005262212.2:p.Arg1362Trp
XM_005262155.4:c.4084C>T	XP_005262212.2:p.Arg1362Trp
XM_005262156.3:c.4036C>T	XP_005262213.2:p.Arg1346Trp
XM_005262156.4:c.4036C>T	XP_005262213.2:p.Arg1346Trp
XM_005262157.3:c.3997C>T	XP_005262214.2:p.Arg1333Trp
XM_005262157.5:c.3997C>T	XP_005262214.2:p.Arg1333Trp
XM_006724666.2:c.4084C>T	XP_006724729.1:p.Arg1362Trp
XM_006724666.4:c.4084C>T	XP_006724729.1:p.Arg1362Trp
XM_006724667.2:c.3922C>T	XP_006724730.1:p.Arg1308Trp
XM_006724667.3:c.3922C>T	XP_006724730.1:p.Arg1308Trp
XM_006724668.2:c.4201C>T	XP_006724731.1:p.Arg1401Trp
XM_006724668.3:c.4201C>T	XP_006724731.1:p.Arg1401Trp
XM_017029601.2:c.4111C>T	XP_016885090.1:p.Arg1371Trp
XM_017029602.1:c.4081C>T	XP_016885091.1:p.Arg1361Trp
XM_017029603.1:c.4033C>T	XP_016885092.1:p.Arg1345Trp
XM_017029604.2:c.4000C>T	XP_016885093.1:p.Arg1334Trp
XM_017029605.1:c.3997C>T	XP_016885094.1:p.Arg1333Trp
XM_017029606.2:c.3970C>T	XP_016885095.1:p.Arg1324Trp
XM_017029607.2:c.3967C>T	XP_016885096.1:p.Arg1323Trp
XM_017029608.2:c.3919C>T	XP_016885097.1:p.Arg1307Trp
XM_017029609.1:c.3883C>T	XP_016885098.1:p.Arg1295Trp
XM_017029610.1:c.3880C>T	XP_016885099.1:p.Arg1294Trp
XM_017029611.1:c.3835C>T	XP_016885100.1:p.Arg1279Trp
XR_001755700.2:n.4426C>T
XR_938400.1:n.4469C>T