Canonical Allele Identifier: CA413708644

Gene: ATRX

Linked Data

• dbSNP Id: rs2148439123
• MyVariant Identifiers: chrX:g.76907779T>A (hg19) ; chrX:g.77652289T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652289T>A , CM000685.2:g.77652289T>A	GRCh38
NC_000023.10:g.76907779T>A , CM000685.1:g.76907779T>A	GRCh37
NC_000023.9:g.76794435T>A	NCBI36
NG_008838.2:g.138933A>T
NG_008838.3:g.138981A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4382A>T MANE Select	ENSP00000362441.4:p.Glu1461Val
ENST00000373344.9:c.4382A>T	ENSP00000362441.4:p.Glu1461Val
ENST00000395603.7:c.4268A>T	ENSP00000378967.3:p.Glu1423Val
ENST00000480283.5:c.*4010A>T	ENSP00000480196.1:n.*4010A>T
NM_000489.4:c.4382A>T	NP_000480.3:p.Glu1461Val
NM_138270.3:c.4268A>T	NP_612114.2:p.Glu1423Val
XM_005262153.3:c.4379A>T	XP_005262210.2:p.Glu1460Val
XM_005262154.3:c.4295A>T	XP_005262211.2:p.Glu1432Val
XM_005262155.3:c.4265A>T	XP_005262212.2:p.Glu1422Val
XM_005262156.3:c.4217A>T	XP_005262213.2:p.Glu1406Val
XM_005262157.3:c.4178A>T	XP_005262214.2:p.Glu1393Val
XM_006724666.2:c.4265A>T	XP_006724729.1:p.Glu1422Val
XM_006724667.2:c.4103A>T	XP_006724730.1:p.Glu1368Val
XM_006724668.2:c.4382A>T	XP_006724731.1:p.Glu1461Val
XR_938400.1:n.4650A>T
NM_000489.5:c.4382A>T	NP_000480.3:p.Glu1461Val
XM_005262153.5:c.4379A>T	XP_005262210.2:p.Glu1460Val
XM_005262154.5:c.4295A>T	XP_005262211.2:p.Glu1432Val
XM_005262155.4:c.4265A>T	XP_005262212.2:p.Glu1422Val
XM_005262156.4:c.4217A>T	XP_005262213.2:p.Glu1406Val
XM_005262157.5:c.4178A>T	XP_005262214.2:p.Glu1393Val
XM_006724666.4:c.4265A>T	XP_006724729.1:p.Glu1422Val
XM_006724667.3:c.4103A>T	XP_006724730.1:p.Glu1368Val
XM_006724668.3:c.4382A>T	XP_006724731.1:p.Glu1461Val
XM_017029601.2:c.4292A>T	XP_016885090.1:p.Glu1431Val
XM_017029602.1:c.4262A>T	XP_016885091.1:p.Glu1421Val
XM_017029603.1:c.4214A>T	XP_016885092.1:p.Glu1405Val
XM_017029604.2:c.4181A>T	XP_016885093.1:p.Glu1394Val
XM_017029605.1:c.4178A>T	XP_016885094.1:p.Glu1393Val
XM_017029606.2:c.4151A>T	XP_016885095.1:p.Glu1384Val
XM_017029607.2:c.4148A>T	XP_016885096.1:p.Glu1383Val
XM_017029608.2:c.4100A>T	XP_016885097.1:p.Glu1367Val
XM_017029609.1:c.4064A>T	XP_016885098.1:p.Glu1355Val
XM_017029610.1:c.4061A>T	XP_016885099.1:p.Glu1354Val
XM_017029611.1:c.4016A>T	XP_016885100.1:p.Glu1339Val
XR_001755700.2:n.4607A>T
NM_138270.4:c.4268A>T	NP_612114.2:p.Glu1423Val
NM_000489.6:c.4382A>T MANE Select	NP_000480.3:p.Glu1461Val
NM_138270.5:c.4268A>T	NP_612114.2:p.Glu1423Val