Canonical Allele Identifier: CA413708606

Gene: ATRX

Linked Data

• dbSNP Id: rs1383067466
• gnomAD v2: X-76907773-T-A
• gnomAD v4: X-77652283-T-A
• MyVariant Identifiers: chrX:g.76907773T>A (hg19) ; chrX:g.77652283T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652283T>A , CM000685.2:g.77652283T>A	GRCh38
NC_000023.10:g.76907773T>A , CM000685.1:g.76907773T>A	GRCh37
NC_000023.9:g.76794429T>A	NCBI36
NG_008838.2:g.138939A>T
NG_008838.3:g.138987A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4388A>T MANE Select	ENSP00000362441.4:p.Glu1463Val
ENST00000373344.9:c.4388A>T	ENSP00000362441.4:p.Glu1463Val
ENST00000395603.7:c.4274A>T	ENSP00000378967.3:p.Glu1425Val
ENST00000480283.5:c.*4016A>T	ENSP00000480196.1:n.*4016A>T
NM_000489.4:c.4388A>T	NP_000480.3:p.Glu1463Val
NM_138270.3:c.4274A>T	NP_612114.2:p.Glu1425Val
XM_005262153.3:c.4385A>T	XP_005262210.2:p.Glu1462Val
XM_005262154.3:c.4301A>T	XP_005262211.2:p.Glu1434Val
XM_005262155.3:c.4271A>T	XP_005262212.2:p.Glu1424Val
XM_005262156.3:c.4223A>T	XP_005262213.2:p.Glu1408Val
XM_005262157.3:c.4184A>T	XP_005262214.2:p.Glu1395Val
XM_006724666.2:c.4271A>T	XP_006724729.1:p.Glu1424Val
XM_006724667.2:c.4109A>T	XP_006724730.1:p.Glu1370Val
XM_006724668.2:c.4388A>T	XP_006724731.1:p.Glu1463Val
XR_938400.1:n.4656A>T
NM_000489.5:c.4388A>T	NP_000480.3:p.Glu1463Val
XM_005262153.5:c.4385A>T	XP_005262210.2:p.Glu1462Val
XM_005262154.5:c.4301A>T	XP_005262211.2:p.Glu1434Val
XM_005262155.4:c.4271A>T	XP_005262212.2:p.Glu1424Val
XM_005262156.4:c.4223A>T	XP_005262213.2:p.Glu1408Val
XM_005262157.5:c.4184A>T	XP_005262214.2:p.Glu1395Val
XM_006724666.4:c.4271A>T	XP_006724729.1:p.Glu1424Val
XM_006724667.3:c.4109A>T	XP_006724730.1:p.Glu1370Val
XM_006724668.3:c.4388A>T	XP_006724731.1:p.Glu1463Val
XM_017029601.2:c.4298A>T	XP_016885090.1:p.Glu1433Val
XM_017029602.1:c.4268A>T	XP_016885091.1:p.Glu1423Val
XM_017029603.1:c.4220A>T	XP_016885092.1:p.Glu1407Val
XM_017029604.2:c.4187A>T	XP_016885093.1:p.Glu1396Val
XM_017029605.1:c.4184A>T	XP_016885094.1:p.Glu1395Val
XM_017029606.2:c.4157A>T	XP_016885095.1:p.Glu1386Val
XM_017029607.2:c.4154A>T	XP_016885096.1:p.Glu1385Val
XM_017029608.2:c.4106A>T	XP_016885097.1:p.Glu1369Val
XM_017029609.1:c.4070A>T	XP_016885098.1:p.Glu1357Val
XM_017029610.1:c.4067A>T	XP_016885099.1:p.Glu1356Val
XM_017029611.1:c.4022A>T	XP_016885100.1:p.Glu1341Val
XR_001755700.2:n.4613A>T
NM_138270.4:c.4274A>T	NP_612114.2:p.Glu1425Val
NM_000489.6:c.4388A>T MANE Select	NP_000480.3:p.Glu1463Val
NM_138270.5:c.4274A>T	NP_612114.2:p.Glu1425Val