Canonical Allele Identifier: CA413699660

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77663498C>A , CM000685.2:g.77663498C>A	GRCh38
NC_000023.10:g.76918987C>A , CM000685.1:g.76918987C>A	GRCh37
NC_000023.9:g.76805643C>A	NCBI36
NG_008838.2:g.127724G>T
NG_008838.3:g.127772G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.4004G>T MANE Select	NP_000480.3:p.Arg1335Ile
ENST00000373344.11:c.4004G>T MANE Select	ENSP00000362441.4:p.Arg1335Ile
NM_000489.4:c.4004G>T	NP_000480.3:p.Arg1335Ile
NM_000489.5:c.4004G>T	NP_000480.3:p.Arg1335Ile
NM_138270.3:c.3890G>T	NP_612114.2:p.Arg1297Ile
NM_138270.4:c.3890G>T	NP_612114.2:p.Arg1297Ile
NM_138270.5:c.3890G>T	NP_612114.2:p.Arg1297Ile
ENST00000373344.9:c.4004G>T	ENSP00000362441.4:p.Arg1335Ile
ENST00000395603.7:c.3890G>T	ENSP00000378967.3:p.Arg1297Ile
ENST00000480283.5:c.*3632G>T	ENSP00000480196.1:n.*3632G>T
ENST00000624166.3:c.3800G>T	ENSP00000485103.1:p.Arg1267Ile
XM_005262153.3:c.4001G>T	XP_005262210.2:p.Arg1334Ile
XM_005262153.5:c.4001G>T	XP_005262210.2:p.Arg1334Ile
XM_005262154.3:c.3917G>T	XP_005262211.2:p.Arg1306Ile
XM_005262154.5:c.3917G>T	XP_005262211.2:p.Arg1306Ile
XM_005262155.3:c.3887G>T	XP_005262212.2:p.Arg1296Ile
XM_005262155.4:c.3887G>T	XP_005262212.2:p.Arg1296Ile
XM_005262156.3:c.3839G>T	XP_005262213.2:p.Arg1280Ile
XM_005262156.4:c.3839G>T	XP_005262213.2:p.Arg1280Ile
XM_005262157.3:c.3800G>T	XP_005262214.2:p.Arg1267Ile
XM_005262157.5:c.3800G>T	XP_005262214.2:p.Arg1267Ile
XM_006724666.2:c.3887G>T	XP_006724729.1:p.Arg1296Ile
XM_006724666.4:c.3887G>T	XP_006724729.1:p.Arg1296Ile
XM_006724667.2:c.3725G>T	XP_006724730.1:p.Arg1242Ile
XM_006724667.3:c.3725G>T	XP_006724730.1:p.Arg1242Ile
XM_006724668.2:c.4004G>T	XP_006724731.1:p.Arg1335Ile
XM_006724668.3:c.4004G>T	XP_006724731.1:p.Arg1335Ile
XM_017029601.2:c.3914G>T	XP_016885090.1:p.Arg1305Ile
XM_017029602.1:c.3884G>T	XP_016885091.1:p.Arg1295Ile
XM_017029603.1:c.3836G>T	XP_016885092.1:p.Arg1279Ile
XM_017029604.2:c.3803G>T	XP_016885093.1:p.Arg1268Ile
XM_017029605.1:c.3800G>T	XP_016885094.1:p.Arg1267Ile
XM_017029606.2:c.3773G>T	XP_016885095.1:p.Arg1258Ile
XM_017029607.2:c.3770G>T	XP_016885096.1:p.Arg1257Ile
XM_017029608.2:c.3722G>T	XP_016885097.1:p.Arg1241Ile
XM_017029609.1:c.3686G>T	XP_016885098.1:p.Arg1229Ile
XM_017029610.1:c.3683G>T	XP_016885099.1:p.Arg1228Ile
XM_017029611.1:c.3638G>T	XP_016885100.1:p.Arg1213Ile
XR_001755700.2:n.4229G>T
XR_938400.1:n.4272G>T