Canonical Allele Identifier: CA413704566

Gene: ATRX

Linked Data

• ClinVar Variation Id: 431119
• ClinVar RCV Id: RCV000496126 ; RCV003332185
• dbSNP Id: rs1135401793
• MyVariant Identifiers: chrX:g.76889145G>A (hg19) ; chrX:g.77633657G>A (hg38)
• PubMed: PMID:23681356 ; PMID:28708303

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633657G>A , CM000685.2:g.77633657G>A	GRCh38
NC_000023.10:g.76889145G>A , CM000685.1:g.76889145G>A	GRCh37
NC_000023.9:g.76775801G>A	NCBI36
NG_008838.2:g.157565C>T
NG_008838.3:g.157613C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4865C>T MANE Select	ENSP00000362441.4:p.Ala1622Val
ENST00000675732.1:c.-38C>T	ENSP00000502598.1:n.-38C>T
ENST00000675908.1:n.600C>T
ENST00000373344.9:c.4865C>T	ENSP00000362441.4:p.Ala1622Val
ENST00000395603.7:c.4751C>T	ENSP00000378967.3:p.Ala1584Val
ENST00000480283.5:c.*4493C>T	ENSP00000480196.1:n.*4493C>T
ENST00000623242.3:c.602C>T
ENST00000624403.1:n.209C>T
NM_000489.4:c.4865C>T	NP_000480.3:p.Ala1622Val
NM_138270.3:c.4751C>T	NP_612114.2:p.Ala1584Val
XM_005262153.3:c.4862C>T	XP_005262210.2:p.Ala1621Val
XM_005262154.3:c.4778C>T	XP_005262211.2:p.Ala1593Val
XM_005262155.3:c.4748C>T	XP_005262212.2:p.Ala1583Val
XM_005262156.3:c.4700C>T	XP_005262213.2:p.Ala1567Val
XM_005262157.3:c.4661C>T	XP_005262214.2:p.Ala1554Val
XM_006724666.2:c.4748C>T	XP_006724729.1:p.Ala1583Val
XM_006724667.2:c.4586C>T	XP_006724730.1:p.Ala1529Val
XM_006724668.2:c.4865C>T	XP_006724731.1:p.Ala1622Val
XR_938400.1:n.5133C>T
NM_000489.5:c.4865C>T	NP_000480.3:p.Ala1622Val
XM_005262153.5:c.4862C>T	XP_005262210.2:p.Ala1621Val
XM_005262154.5:c.4778C>T	XP_005262211.2:p.Ala1593Val
XM_005262155.4:c.4748C>T	XP_005262212.2:p.Ala1583Val
XM_005262156.4:c.4700C>T	XP_005262213.2:p.Ala1567Val
XM_005262157.5:c.4661C>T	XP_005262214.2:p.Ala1554Val
XM_006724666.4:c.4748C>T	XP_006724729.1:p.Ala1583Val
XM_006724667.3:c.4586C>T	XP_006724730.1:p.Ala1529Val
XM_006724668.3:c.4865C>T	XP_006724731.1:p.Ala1622Val
XM_017029601.2:c.4775C>T	XP_016885090.1:p.Ala1592Val
XM_017029602.1:c.4745C>T	XP_016885091.1:p.Ala1582Val
XM_017029603.1:c.4697C>T	XP_016885092.1:p.Ala1566Val
XM_017029604.2:c.4664C>T	XP_016885093.1:p.Ala1555Val
XM_017029605.1:c.4661C>T	XP_016885094.1:p.Ala1554Val
XM_017029606.2:c.4634C>T	XP_016885095.1:p.Ala1545Val
XM_017029607.2:c.4631C>T	XP_016885096.1:p.Ala1544Val
XM_017029608.2:c.4583C>T	XP_016885097.1:p.Ala1528Val
XM_017029609.1:c.4547C>T	XP_016885098.1:p.Ala1516Val
XM_017029610.1:c.4544C>T	XP_016885099.1:p.Ala1515Val
XM_017029611.1:c.4499C>T	XP_016885100.1:p.Ala1500Val
XR_001755700.2:n.5090C>T
NM_138270.4:c.4751C>T	NP_612114.2:p.Ala1584Val
NM_000489.6:c.4865C>T MANE Select	NP_000480.3:p.Ala1622Val
NM_138270.5:c.4751C>T	NP_612114.2:p.Ala1584Val