Canonical Allele Identifier: CA517471447

Gene: ATRX

Linked Data

• dbSNP Id: rs1603084227
• MyVariant Identifiers: chrX:g.76907688T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652198T>A , CM000685.2:g.77652198T>A	GRCh38
NC_000023.10:g.76907688T>A , CM000685.1:g.76907688T>A	GRCh37
NC_000023.9:g.76794344T>A	NCBI36
NG_008838.2:g.139024A>T
NG_008838.3:g.139072A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4473A>T MANE Select	ENSP00000362441.4:p.Thr1491=
ENST00000373344.9:c.4473A>T	ENSP00000362441.4:p.Thr1491=
ENST00000395603.7:c.4359A>T	ENSP00000378967.3:p.Thr1453=
ENST00000480283.5:c.*4101A>T	ENSP00000480196.1:n.*4101A>T
ENST00000623242.3:c.79A>T
NM_000489.4:c.4473A>T	NP_000480.3:p.Thr1491=
NM_138270.3:c.4359A>T	NP_612114.2:p.Thr1453=
XM_005262153.3:c.4470A>T	XP_005262210.2:p.Thr1490=
XM_005262154.3:c.4386A>T	XP_005262211.2:p.Thr1462=
XM_005262155.3:c.4356A>T	XP_005262212.2:p.Thr1452=
XM_005262156.3:c.4308A>T	XP_005262213.2:p.Thr1436=
XM_005262157.3:c.4269A>T	XP_005262214.2:p.Thr1423=
XM_006724666.2:c.4356A>T	XP_006724729.1:p.Thr1452=
XM_006724667.2:c.4194A>T	XP_006724730.1:p.Thr1398=
XM_006724668.2:c.4473A>T	XP_006724731.1:p.Thr1491=
XR_938400.1:n.4741A>T
NM_000489.5:c.4473A>T	NP_000480.3:p.Thr1491=
XM_005262153.5:c.4470A>T	XP_005262210.2:p.Thr1490=
XM_005262154.5:c.4386A>T	XP_005262211.2:p.Thr1462=
XM_005262155.4:c.4356A>T	XP_005262212.2:p.Thr1452=
XM_005262156.4:c.4308A>T	XP_005262213.2:p.Thr1436=
XM_005262157.5:c.4269A>T	XP_005262214.2:p.Thr1423=
XM_006724666.4:c.4356A>T	XP_006724729.1:p.Thr1452=
XM_006724667.3:c.4194A>T	XP_006724730.1:p.Thr1398=
XM_006724668.3:c.4473A>T	XP_006724731.1:p.Thr1491=
XM_017029601.2:c.4383A>T	XP_016885090.1:p.Thr1461=
XM_017029602.1:c.4353A>T	XP_016885091.1:p.Thr1451=
XM_017029603.1:c.4305A>T	XP_016885092.1:p.Thr1435=
XM_017029604.2:c.4272A>T	XP_016885093.1:p.Thr1424=
XM_017029605.1:c.4269A>T	XP_016885094.1:p.Thr1423=
XM_017029606.2:c.4242A>T	XP_016885095.1:p.Thr1414=
XM_017029607.2:c.4239A>T	XP_016885096.1:p.Thr1413=
XM_017029608.2:c.4191A>T	XP_016885097.1:p.Thr1397=
XM_017029609.1:c.4155A>T	XP_016885098.1:p.Thr1385=
XM_017029610.1:c.4152A>T	XP_016885099.1:p.Thr1384=
XM_017029611.1:c.4107A>T	XP_016885100.1:p.Thr1369=
XR_001755700.2:n.4698A>T
NM_138270.4:c.4359A>T	NP_612114.2:p.Thr1453=
NM_000489.6:c.4473A>T MANE Select	NP_000480.3:p.Thr1491=
NM_138270.5:c.4359A>T	NP_612114.2:p.Thr1453=