Canonical Allele Identifier: CA413708103

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437045
• MyVariant Identifiers: chrX:g.76907684T>A (hg19) ; chrX:g.77652194T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652194T>A , CM000685.2:g.77652194T>A	GRCh38
NC_000023.10:g.76907684T>A , CM000685.1:g.76907684T>A	GRCh37
NC_000023.9:g.76794340T>A	NCBI36
NG_008838.2:g.139028A>T
NG_008838.3:g.139076A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4477A>T MANE Select	ENSP00000362441.4:p.Thr1493Ser
ENST00000373344.9:c.4477A>T	ENSP00000362441.4:p.Thr1493Ser
ENST00000395603.7:c.4363A>T	ENSP00000378967.3:p.Thr1455Ser
ENST00000480283.5:c.*4105A>T	ENSP00000480196.1:n.*4105A>T
ENST00000623242.3:c.83A>T
NM_000489.4:c.4477A>T	NP_000480.3:p.Thr1493Ser
NM_138270.3:c.4363A>T	NP_612114.2:p.Thr1455Ser
XM_005262153.3:c.4474A>T	XP_005262210.2:p.Thr1492Ser
XM_005262154.3:c.4390A>T	XP_005262211.2:p.Thr1464Ser
XM_005262155.3:c.4360A>T	XP_005262212.2:p.Thr1454Ser
XM_005262156.3:c.4312A>T	XP_005262213.2:p.Thr1438Ser
XM_005262157.3:c.4273A>T	XP_005262214.2:p.Thr1425Ser
XM_006724666.2:c.4360A>T	XP_006724729.1:p.Thr1454Ser
XM_006724667.2:c.4198A>T	XP_006724730.1:p.Thr1400Ser
XM_006724668.2:c.4477A>T	XP_006724731.1:p.Thr1493Ser
XR_938400.1:n.4745A>T
NM_000489.5:c.4477A>T	NP_000480.3:p.Thr1493Ser
XM_005262153.5:c.4474A>T	XP_005262210.2:p.Thr1492Ser
XM_005262154.5:c.4390A>T	XP_005262211.2:p.Thr1464Ser
XM_005262155.4:c.4360A>T	XP_005262212.2:p.Thr1454Ser
XM_005262156.4:c.4312A>T	XP_005262213.2:p.Thr1438Ser
XM_005262157.5:c.4273A>T	XP_005262214.2:p.Thr1425Ser
XM_006724666.4:c.4360A>T	XP_006724729.1:p.Thr1454Ser
XM_006724667.3:c.4198A>T	XP_006724730.1:p.Thr1400Ser
XM_006724668.3:c.4477A>T	XP_006724731.1:p.Thr1493Ser
XM_017029601.2:c.4387A>T	XP_016885090.1:p.Thr1463Ser
XM_017029602.1:c.4357A>T	XP_016885091.1:p.Thr1453Ser
XM_017029603.1:c.4309A>T	XP_016885092.1:p.Thr1437Ser
XM_017029604.2:c.4276A>T	XP_016885093.1:p.Thr1426Ser
XM_017029605.1:c.4273A>T	XP_016885094.1:p.Thr1425Ser
XM_017029606.2:c.4246A>T	XP_016885095.1:p.Thr1416Ser
XM_017029607.2:c.4243A>T	XP_016885096.1:p.Thr1415Ser
XM_017029608.2:c.4195A>T	XP_016885097.1:p.Thr1399Ser
XM_017029609.1:c.4159A>T	XP_016885098.1:p.Thr1387Ser
XM_017029610.1:c.4156A>T	XP_016885099.1:p.Thr1386Ser
XM_017029611.1:c.4111A>T	XP_016885100.1:p.Thr1371Ser
XR_001755700.2:n.4702A>T
NM_138270.4:c.4363A>T	NP_612114.2:p.Thr1455Ser
NM_000489.6:c.4477A>T MANE Select	NP_000480.3:p.Thr1493Ser
NM_138270.5:c.4363A>T	NP_612114.2:p.Thr1455Ser