Canonical Allele Identifier: CA413708964

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440397
• MyVariant Identifiers: chrX:g.76907827T>A (hg19) ; chrX:g.77652337T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652337T>A , CM000685.2:g.77652337T>A	GRCh38
NC_000023.10:g.76907827T>A , CM000685.1:g.76907827T>A	GRCh37
NC_000023.9:g.76794483T>A	NCBI36
NG_008838.2:g.138885A>T
NG_008838.3:g.138933A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4334A>T MANE Select	ENSP00000362441.4:p.Glu1445Val
ENST00000373344.9:c.4334A>T	ENSP00000362441.4:p.Glu1445Val
ENST00000395603.7:c.4220A>T	ENSP00000378967.3:p.Glu1407Val
ENST00000480283.5:c.*3962A>T	ENSP00000480196.1:n.*3962A>T
NM_000489.4:c.4334A>T	NP_000480.3:p.Glu1445Val
NM_138270.3:c.4220A>T	NP_612114.2:p.Glu1407Val
XM_005262153.3:c.4331A>T	XP_005262210.2:p.Glu1444Val
XM_005262154.3:c.4247A>T	XP_005262211.2:p.Glu1416Val
XM_005262155.3:c.4217A>T	XP_005262212.2:p.Glu1406Val
XM_005262156.3:c.4169A>T	XP_005262213.2:p.Glu1390Val
XM_005262157.3:c.4130A>T	XP_005262214.2:p.Glu1377Val
XM_006724666.2:c.4217A>T	XP_006724729.1:p.Glu1406Val
XM_006724667.2:c.4055A>T	XP_006724730.1:p.Glu1352Val
XM_006724668.2:c.4334A>T	XP_006724731.1:p.Glu1445Val
XR_938400.1:n.4602A>T
NM_000489.5:c.4334A>T	NP_000480.3:p.Glu1445Val
XM_005262153.5:c.4331A>T	XP_005262210.2:p.Glu1444Val
XM_005262154.5:c.4247A>T	XP_005262211.2:p.Glu1416Val
XM_005262155.4:c.4217A>T	XP_005262212.2:p.Glu1406Val
XM_005262156.4:c.4169A>T	XP_005262213.2:p.Glu1390Val
XM_005262157.5:c.4130A>T	XP_005262214.2:p.Glu1377Val
XM_006724666.4:c.4217A>T	XP_006724729.1:p.Glu1406Val
XM_006724667.3:c.4055A>T	XP_006724730.1:p.Glu1352Val
XM_006724668.3:c.4334A>T	XP_006724731.1:p.Glu1445Val
XM_017029601.2:c.4244A>T	XP_016885090.1:p.Glu1415Val
XM_017029602.1:c.4214A>T	XP_016885091.1:p.Glu1405Val
XM_017029603.1:c.4166A>T	XP_016885092.1:p.Glu1389Val
XM_017029604.2:c.4133A>T	XP_016885093.1:p.Glu1378Val
XM_017029605.1:c.4130A>T	XP_016885094.1:p.Glu1377Val
XM_017029606.2:c.4103A>T	XP_016885095.1:p.Glu1368Val
XM_017029607.2:c.4100A>T	XP_016885096.1:p.Glu1367Val
XM_017029608.2:c.4052A>T	XP_016885097.1:p.Glu1351Val
XM_017029609.1:c.4016A>T	XP_016885098.1:p.Glu1339Val
XM_017029610.1:c.4013A>T	XP_016885099.1:p.Glu1338Val
XM_017029611.1:c.3968A>T	XP_016885100.1:p.Glu1323Val
XR_001755700.2:n.4559A>T
NM_138270.4:c.4220A>T	NP_612114.2:p.Glu1407Val
NM_000489.6:c.4334A>T MANE Select	NP_000480.3:p.Glu1445Val
NM_138270.5:c.4220A>T	NP_612114.2:p.Glu1407Val