Canonical Allele Identifier: CA256016

Gene: ATRX

Linked Data

• ClinVar Variation Id: 11721
• ClinVar RCV Id: RCV000012487 ; RCV002285255
• dbSNP Id: rs122445093
• MyVariant Identifiers: chrX:g.76889184T>C (hg19) ; chrX:g.77633696T>C (hg38)
• PubMed: PMID:7697714

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633696T>C , CM000685.2:g.77633696T>C	GRCh38
NC_000023.10:g.76889184T>C , CM000685.1:g.76889184T>C	GRCh37
NC_000023.9:g.76775840T>C	NCBI36
NG_008838.2:g.157526A>G
NG_008838.3:g.157574A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4826A>G MANE Select	ENSP00000362441.4:p.His1609Arg
ENST00000675732.1:c.-77A>G	ENSP00000502598.1:n.-77A>G
ENST00000675908.1:n.561A>G
ENST00000373344.9:c.4826A>G	ENSP00000362441.4:p.His1609Arg
ENST00000395603.7:c.4712A>G	ENSP00000378967.3:p.His1571Arg
ENST00000480283.5:c.*4454A>G	ENSP00000480196.1:n.*4454A>G
ENST00000623242.3:c.563A>G
ENST00000624403.1:n.170A>G
NM_000489.4:c.4826A>G	NP_000480.3:p.His1609Arg
NM_138270.3:c.4712A>G	NP_612114.2:p.His1571Arg
XM_005262153.3:c.4823A>G	XP_005262210.2:p.His1608Arg
XM_005262154.3:c.4739A>G	XP_005262211.2:p.His1580Arg
XM_005262155.3:c.4709A>G	XP_005262212.2:p.His1570Arg
XM_005262156.3:c.4661A>G	XP_005262213.2:p.His1554Arg
XM_005262157.3:c.4622A>G	XP_005262214.2:p.His1541Arg
XM_006724666.2:c.4709A>G	XP_006724729.1:p.His1570Arg
XM_006724667.2:c.4547A>G	XP_006724730.1:p.His1516Arg
XM_006724668.2:c.4826A>G	XP_006724731.1:p.His1609Arg
XR_938400.1:n.5094A>G
NM_000489.5:c.4826A>G	NP_000480.3:p.His1609Arg
XM_005262153.5:c.4823A>G	XP_005262210.2:p.His1608Arg
XM_005262154.5:c.4739A>G	XP_005262211.2:p.His1580Arg
XM_005262155.4:c.4709A>G	XP_005262212.2:p.His1570Arg
XM_005262156.4:c.4661A>G	XP_005262213.2:p.His1554Arg
XM_005262157.5:c.4622A>G	XP_005262214.2:p.His1541Arg
XM_006724666.4:c.4709A>G	XP_006724729.1:p.His1570Arg
XM_006724667.3:c.4547A>G	XP_006724730.1:p.His1516Arg
XM_006724668.3:c.4826A>G	XP_006724731.1:p.His1609Arg
XM_017029601.2:c.4736A>G	XP_016885090.1:p.His1579Arg
XM_017029602.1:c.4706A>G	XP_016885091.1:p.His1569Arg
XM_017029603.1:c.4658A>G	XP_016885092.1:p.His1553Arg
XM_017029604.2:c.4625A>G	XP_016885093.1:p.His1542Arg
XM_017029605.1:c.4622A>G	XP_016885094.1:p.His1541Arg
XM_017029606.2:c.4595A>G	XP_016885095.1:p.His1532Arg
XM_017029607.2:c.4592A>G	XP_016885096.1:p.His1531Arg
XM_017029608.2:c.4544A>G	XP_016885097.1:p.His1515Arg
XM_017029609.1:c.4508A>G	XP_016885098.1:p.His1503Arg
XM_017029610.1:c.4505A>G	XP_016885099.1:p.His1502Arg
XM_017029611.1:c.4460A>G	XP_016885100.1:p.His1487Arg
XR_001755700.2:n.5051A>G
NM_138270.4:c.4712A>G	NP_612114.2:p.His1571Arg
NM_000489.6:c.4826A>G MANE Select	NP_000480.3:p.His1609Arg
NM_138270.5:c.4712A>G	NP_612114.2:p.His1571Arg