Canonical Allele Identifier: CA413706499

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681819G>A , CM000685.2:g.77681819G>A	GRCh38
NC_000023.10:g.76937311G>A , CM000685.1:g.76937311G>A	GRCh37
NC_000023.9:g.76823967G>A	NCBI36
NG_008838.2:g.109403C>T
NG_008838.3:g.109451C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3437C>T MANE Select	NP_000480.3:p.Thr1146Ile
ENST00000373344.11:c.3437C>T MANE Select	ENSP00000362441.4:p.Thr1146Ile
NM_000489.4:c.3437C>T	NP_000480.3:p.Thr1146Ile
NM_000489.5:c.3437C>T	NP_000480.3:p.Thr1146Ile
NM_138270.3:c.3323C>T	NP_612114.2:p.Thr1108Ile
NM_138270.4:c.3323C>T	NP_612114.2:p.Thr1108Ile
NM_138270.5:c.3323C>T	NP_612114.2:p.Thr1108Ile
ENST00000373344.9:c.3437C>T	ENSP00000362441.4:p.Thr1146Ile
ENST00000395603.7:c.3323C>T	ENSP00000378967.3:p.Thr1108Ile
ENST00000480283.5:c.*3065C>T	ENSP00000480196.1:n.*3065C>T
ENST00000493470.2:c.323C>T	ENSP00000485408.1:p.Thr108Ile
ENST00000624166.3:c.3233C>T	ENSP00000485103.1:p.Thr1078Ile
XM_005262153.3:c.3434C>T	XP_005262210.2:p.Thr1145Ile
XM_005262153.5:c.3434C>T	XP_005262210.2:p.Thr1145Ile
XM_005262154.3:c.3350C>T	XP_005262211.2:p.Thr1117Ile
XM_005262154.5:c.3350C>T	XP_005262211.2:p.Thr1117Ile
XM_005262155.3:c.3320C>T	XP_005262212.2:p.Thr1107Ile
XM_005262155.4:c.3320C>T	XP_005262212.2:p.Thr1107Ile
XM_005262156.3:c.3272C>T	XP_005262213.2:p.Thr1091Ile
XM_005262156.4:c.3272C>T	XP_005262213.2:p.Thr1091Ile
XM_005262157.3:c.3233C>T	XP_005262214.2:p.Thr1078Ile
XM_005262157.5:c.3233C>T	XP_005262214.2:p.Thr1078Ile
XM_006724666.2:c.3320C>T	XP_006724729.1:p.Thr1107Ile
XM_006724666.4:c.3320C>T	XP_006724729.1:p.Thr1107Ile
XM_006724667.2:c.3158C>T	XP_006724730.1:p.Thr1053Ile
XM_006724667.3:c.3158C>T	XP_006724730.1:p.Thr1053Ile
XM_006724668.2:c.3437C>T	XP_006724731.1:p.Thr1146Ile
XM_006724668.3:c.3437C>T	XP_006724731.1:p.Thr1146Ile
XM_017029601.2:c.3347C>T	XP_016885090.1:p.Thr1116Ile
XM_017029602.1:c.3317C>T	XP_016885091.1:p.Thr1106Ile
XM_017029603.1:c.3269C>T	XP_016885092.1:p.Thr1090Ile
XM_017029604.2:c.3236C>T	XP_016885093.1:p.Thr1079Ile
XM_017029605.1:c.3233C>T	XP_016885094.1:p.Thr1078Ile
XM_017029606.2:c.3206C>T	XP_016885095.1:p.Thr1069Ile
XM_017029607.2:c.3203C>T	XP_016885096.1:p.Thr1068Ile
XM_017029608.2:c.3155C>T	XP_016885097.1:p.Thr1052Ile
XM_017029609.1:c.3119C>T	XP_016885098.1:p.Thr1040Ile
XM_017029610.1:c.3116C>T	XP_016885099.1:p.Thr1039Ile
XM_017029611.1:c.3071C>T	XP_016885100.1:p.Thr1024Ile
XR_001755700.2:n.3662C>T
XR_938400.1:n.3705C>T