Canonical Allele Identifier: CA413708249

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907714T>A (hg19) ; chrX:g.77652224T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652224T>A , CM000685.2:g.77652224T>A	GRCh38
NC_000023.10:g.76907714T>A , CM000685.1:g.76907714T>A	GRCh37
NC_000023.9:g.76794370T>A	NCBI36
NG_008838.2:g.138998A>T
NG_008838.3:g.139046A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4447A>T MANE Select	ENSP00000362441.4:p.Ile1483Phe
ENST00000373344.9:c.4447A>T	ENSP00000362441.4:p.Ile1483Phe
ENST00000395603.7:c.4333A>T	ENSP00000378967.3:p.Ile1445Phe
ENST00000480283.5:c.*4075A>T	ENSP00000480196.1:n.*4075A>T
ENST00000623242.3:c.53A>T
NM_000489.4:c.4447A>T	NP_000480.3:p.Ile1483Phe
NM_138270.3:c.4333A>T	NP_612114.2:p.Ile1445Phe
XM_005262153.3:c.4444A>T	XP_005262210.2:p.Ile1482Phe
XM_005262154.3:c.4360A>T	XP_005262211.2:p.Ile1454Phe
XM_005262155.3:c.4330A>T	XP_005262212.2:p.Ile1444Phe
XM_005262156.3:c.4282A>T	XP_005262213.2:p.Ile1428Phe
XM_005262157.3:c.4243A>T	XP_005262214.2:p.Ile1415Phe
XM_006724666.2:c.4330A>T	XP_006724729.1:p.Ile1444Phe
XM_006724667.2:c.4168A>T	XP_006724730.1:p.Ile1390Phe
XM_006724668.2:c.4447A>T	XP_006724731.1:p.Ile1483Phe
XR_938400.1:n.4715A>T
NM_000489.5:c.4447A>T	NP_000480.3:p.Ile1483Phe
XM_005262153.5:c.4444A>T	XP_005262210.2:p.Ile1482Phe
XM_005262154.5:c.4360A>T	XP_005262211.2:p.Ile1454Phe
XM_005262155.4:c.4330A>T	XP_005262212.2:p.Ile1444Phe
XM_005262156.4:c.4282A>T	XP_005262213.2:p.Ile1428Phe
XM_005262157.5:c.4243A>T	XP_005262214.2:p.Ile1415Phe
XM_006724666.4:c.4330A>T	XP_006724729.1:p.Ile1444Phe
XM_006724667.3:c.4168A>T	XP_006724730.1:p.Ile1390Phe
XM_006724668.3:c.4447A>T	XP_006724731.1:p.Ile1483Phe
XM_017029601.2:c.4357A>T	XP_016885090.1:p.Ile1453Phe
XM_017029602.1:c.4327A>T	XP_016885091.1:p.Ile1443Phe
XM_017029603.1:c.4279A>T	XP_016885092.1:p.Ile1427Phe
XM_017029604.2:c.4246A>T	XP_016885093.1:p.Ile1416Phe
XM_017029605.1:c.4243A>T	XP_016885094.1:p.Ile1415Phe
XM_017029606.2:c.4216A>T	XP_016885095.1:p.Ile1406Phe
XM_017029607.2:c.4213A>T	XP_016885096.1:p.Ile1405Phe
XM_017029608.2:c.4165A>T	XP_016885097.1:p.Ile1389Phe
XM_017029609.1:c.4129A>T	XP_016885098.1:p.Ile1377Phe
XM_017029610.1:c.4126A>T	XP_016885099.1:p.Ile1376Phe
XM_017029611.1:c.4081A>T	XP_016885100.1:p.Ile1361Phe
XR_001755700.2:n.4672A>T
NM_138270.4:c.4333A>T	NP_612114.2:p.Ile1445Phe
NM_000489.6:c.4447A>T MANE Select	NP_000480.3:p.Ile1483Phe
NM_138270.5:c.4333A>T	NP_612114.2:p.Ile1445Phe