Canonical Allele Identifier: CA413699501

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77663429G>A , CM000685.2:g.77663429G>A	GRCh38
NC_000023.10:g.76918918G>A , CM000685.1:g.76918918G>A	GRCh37
NC_000023.9:g.76805574G>A	NCBI36
NG_008838.2:g.127793C>T
NG_008838.3:g.127841C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.4073C>T MANE Select	NP_000480.3:p.Thr1358Ile
ENST00000373344.11:c.4073C>T MANE Select	ENSP00000362441.4:p.Thr1358Ile
NM_000489.4:c.4073C>T	NP_000480.3:p.Thr1358Ile
NM_000489.5:c.4073C>T	NP_000480.3:p.Thr1358Ile
NM_138270.3:c.3959C>T	NP_612114.2:p.Thr1320Ile
NM_138270.4:c.3959C>T	NP_612114.2:p.Thr1320Ile
NM_138270.5:c.3959C>T	NP_612114.2:p.Thr1320Ile
ENST00000373344.9:c.4073C>T	ENSP00000362441.4:p.Thr1358Ile
ENST00000395603.7:c.3959C>T	ENSP00000378967.3:p.Thr1320Ile
ENST00000480283.5:c.*3701C>T	ENSP00000480196.1:n.*3701C>T
ENST00000624166.3:c.3869C>T	ENSP00000485103.1:p.Thr1290Ile
XM_005262153.3:c.4070C>T	XP_005262210.2:p.Thr1357Ile
XM_005262153.5:c.4070C>T	XP_005262210.2:p.Thr1357Ile
XM_005262154.3:c.3986C>T	XP_005262211.2:p.Thr1329Ile
XM_005262154.5:c.3986C>T	XP_005262211.2:p.Thr1329Ile
XM_005262155.3:c.3956C>T	XP_005262212.2:p.Thr1319Ile
XM_005262155.4:c.3956C>T	XP_005262212.2:p.Thr1319Ile
XM_005262156.3:c.3908C>T	XP_005262213.2:p.Thr1303Ile
XM_005262156.4:c.3908C>T	XP_005262213.2:p.Thr1303Ile
XM_005262157.3:c.3869C>T	XP_005262214.2:p.Thr1290Ile
XM_005262157.5:c.3869C>T	XP_005262214.2:p.Thr1290Ile
XM_006724666.2:c.3956C>T	XP_006724729.1:p.Thr1319Ile
XM_006724666.4:c.3956C>T	XP_006724729.1:p.Thr1319Ile
XM_006724667.2:c.3794C>T	XP_006724730.1:p.Thr1265Ile
XM_006724667.3:c.3794C>T	XP_006724730.1:p.Thr1265Ile
XM_006724668.2:c.4073C>T	XP_006724731.1:p.Thr1358Ile
XM_006724668.3:c.4073C>T	XP_006724731.1:p.Thr1358Ile
XM_017029601.2:c.3983C>T	XP_016885090.1:p.Thr1328Ile
XM_017029602.1:c.3953C>T	XP_016885091.1:p.Thr1318Ile
XM_017029603.1:c.3905C>T	XP_016885092.1:p.Thr1302Ile
XM_017029604.2:c.3872C>T	XP_016885093.1:p.Thr1291Ile
XM_017029605.1:c.3869C>T	XP_016885094.1:p.Thr1290Ile
XM_017029606.2:c.3842C>T	XP_016885095.1:p.Thr1281Ile
XM_017029607.2:c.3839C>T	XP_016885096.1:p.Thr1280Ile
XM_017029608.2:c.3791C>T	XP_016885097.1:p.Thr1264Ile
XM_017029609.1:c.3755C>T	XP_016885098.1:p.Thr1252Ile
XM_017029610.1:c.3752C>T	XP_016885099.1:p.Thr1251Ile
XM_017029611.1:c.3707C>T	XP_016885100.1:p.Thr1236Ile
XR_001755700.2:n.4298C>T
XR_938400.1:n.4341C>T