Canonical Allele Identifier: CA413705984

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77636028G>A , CM000685.2:g.77636028G>A	GRCh38
NC_000023.10:g.76891519G>A , CM000685.1:g.76891519G>A	GRCh37
NC_000023.9:g.76778175G>A	NCBI36
NG_008838.2:g.155194C>T
NG_008838.3:g.155242C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.4586C>T MANE Select	NP_000480.3:p.Thr1529Ile
ENST00000373344.11:c.4586C>T MANE Select	ENSP00000362441.4:p.Thr1529Ile
NM_000489.4:c.4586C>T	NP_000480.3:p.Thr1529Ile
NM_000489.5:c.4586C>T	NP_000480.3:p.Thr1529Ile
NM_138270.3:c.4472C>T	NP_612114.2:p.Thr1491Ile
NM_138270.4:c.4472C>T	NP_612114.2:p.Thr1491Ile
NM_138270.5:c.4472C>T	NP_612114.2:p.Thr1491Ile
ENST00000373344.9:c.4586C>T	ENSP00000362441.4:p.Thr1529Ile
ENST00000395603.7:c.4472C>T	ENSP00000378967.3:p.Thr1491Ile
ENST00000460639.2:n.66C>T
ENST00000480283.5:c.*4214C>T	ENSP00000480196.1:n.*4214C>T
ENST00000623242.3:c.323C>T
XM_005262153.3:c.4583C>T	XP_005262210.2:p.Thr1528Ile
XM_005262153.5:c.4583C>T	XP_005262210.2:p.Thr1528Ile
XM_005262154.3:c.4499C>T	XP_005262211.2:p.Thr1500Ile
XM_005262154.5:c.4499C>T	XP_005262211.2:p.Thr1500Ile
XM_005262155.3:c.4469C>T	XP_005262212.2:p.Thr1490Ile
XM_005262155.4:c.4469C>T	XP_005262212.2:p.Thr1490Ile
XM_005262156.3:c.4421C>T	XP_005262213.2:p.Thr1474Ile
XM_005262156.4:c.4421C>T	XP_005262213.2:p.Thr1474Ile
XM_005262157.3:c.4382C>T	XP_005262214.2:p.Thr1461Ile
XM_005262157.5:c.4382C>T	XP_005262214.2:p.Thr1461Ile
XM_006724666.2:c.4469C>T	XP_006724729.1:p.Thr1490Ile
XM_006724666.4:c.4469C>T	XP_006724729.1:p.Thr1490Ile
XM_006724667.2:c.4307C>T	XP_006724730.1:p.Thr1436Ile
XM_006724667.3:c.4307C>T	XP_006724730.1:p.Thr1436Ile
XM_006724668.2:c.4586C>T	XP_006724731.1:p.Thr1529Ile
XM_006724668.3:c.4586C>T	XP_006724731.1:p.Thr1529Ile
XM_017029601.2:c.4496C>T	XP_016885090.1:p.Thr1499Ile
XM_017029602.1:c.4466C>T	XP_016885091.1:p.Thr1489Ile
XM_017029603.1:c.4418C>T	XP_016885092.1:p.Thr1473Ile
XM_017029604.2:c.4385C>T	XP_016885093.1:p.Thr1462Ile
XM_017029605.1:c.4382C>T	XP_016885094.1:p.Thr1461Ile
XM_017029606.2:c.4355C>T	XP_016885095.1:p.Thr1452Ile
XM_017029607.2:c.4352C>T	XP_016885096.1:p.Thr1451Ile
XM_017029608.2:c.4304C>T	XP_016885097.1:p.Thr1435Ile
XM_017029609.1:c.4268C>T	XP_016885098.1:p.Thr1423Ile
XM_017029610.1:c.4265C>T	XP_016885099.1:p.Thr1422Ile
XM_017029611.1:c.4220C>T	XP_016885100.1:p.Thr1407Ile
XR_001755700.2:n.4811C>T
XR_938400.1:n.4854C>T