Canonical Allele Identifier: CA413708389

Gene: ATRX

Linked Data

• dbSNP Id: rs2148438147
• MyVariant Identifiers: chrX:g.76907740C>A (hg19) ; chrX:g.77652250C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652250C>A , CM000685.2:g.77652250C>A	GRCh38
NC_000023.10:g.76907740C>A , CM000685.1:g.76907740C>A	GRCh37
NC_000023.9:g.76794396C>A	NCBI36
NG_008838.2:g.138972G>T
NG_008838.3:g.139020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4421G>T MANE Select	ENSP00000362441.4:p.Gly1474Val
ENST00000373344.9:c.4421G>T	ENSP00000362441.4:p.Gly1474Val
ENST00000395603.7:c.4307G>T	ENSP00000378967.3:p.Gly1436Val
ENST00000480283.5:c.*4049G>T	ENSP00000480196.1:n.*4049G>T
ENST00000623242.3:c.27G>T
NM_000489.4:c.4421G>T	NP_000480.3:p.Gly1474Val
NM_138270.3:c.4307G>T	NP_612114.2:p.Gly1436Val
XM_005262153.3:c.4418G>T	XP_005262210.2:p.Gly1473Val
XM_005262154.3:c.4334G>T	XP_005262211.2:p.Gly1445Val
XM_005262155.3:c.4304G>T	XP_005262212.2:p.Gly1435Val
XM_005262156.3:c.4256G>T	XP_005262213.2:p.Gly1419Val
XM_005262157.3:c.4217G>T	XP_005262214.2:p.Gly1406Val
XM_006724666.2:c.4304G>T	XP_006724729.1:p.Gly1435Val
XM_006724667.2:c.4142G>T	XP_006724730.1:p.Gly1381Val
XM_006724668.2:c.4421G>T	XP_006724731.1:p.Gly1474Val
XR_938400.1:n.4689G>T
NM_000489.5:c.4421G>T	NP_000480.3:p.Gly1474Val
XM_005262153.5:c.4418G>T	XP_005262210.2:p.Gly1473Val
XM_005262154.5:c.4334G>T	XP_005262211.2:p.Gly1445Val
XM_005262155.4:c.4304G>T	XP_005262212.2:p.Gly1435Val
XM_005262156.4:c.4256G>T	XP_005262213.2:p.Gly1419Val
XM_005262157.5:c.4217G>T	XP_005262214.2:p.Gly1406Val
XM_006724666.4:c.4304G>T	XP_006724729.1:p.Gly1435Val
XM_006724667.3:c.4142G>T	XP_006724730.1:p.Gly1381Val
XM_006724668.3:c.4421G>T	XP_006724731.1:p.Gly1474Val
XM_017029601.2:c.4331G>T	XP_016885090.1:p.Gly1444Val
XM_017029602.1:c.4301G>T	XP_016885091.1:p.Gly1434Val
XM_017029603.1:c.4253G>T	XP_016885092.1:p.Gly1418Val
XM_017029604.2:c.4220G>T	XP_016885093.1:p.Gly1407Val
XM_017029605.1:c.4217G>T	XP_016885094.1:p.Gly1406Val
XM_017029606.2:c.4190G>T	XP_016885095.1:p.Gly1397Val
XM_017029607.2:c.4187G>T	XP_016885096.1:p.Gly1396Val
XM_017029608.2:c.4139G>T	XP_016885097.1:p.Gly1380Val
XM_017029609.1:c.4103G>T	XP_016885098.1:p.Gly1368Val
XM_017029610.1:c.4100G>T	XP_016885099.1:p.Gly1367Val
XM_017029611.1:c.4055G>T	XP_016885100.1:p.Gly1352Val
XR_001755700.2:n.4646G>T
NM_138270.4:c.4307G>T	NP_612114.2:p.Gly1436Val
NM_000489.6:c.4421G>T MANE Select	NP_000480.3:p.Gly1474Val
NM_138270.5:c.4307G>T	NP_612114.2:p.Gly1436Val