Canonical Allele Identifier: CA146689

Gene: ATRX

Linked Data

• ClinVar Variation Id: 93140
• ClinVar RCV Id: RCV000078964 ; RCV000477122 ; RCV002311564 ; RCV001650900 ; RCV002504990
• dbSNP Id: rs25641
• ExAC: X:76891446 A / G
• gnomAD v2: X-76891446-A-G
• gnomAD v3: X-77635955-A-G
• gnomAD v4: X-77635955-A-G
• COSMIC: COSM5020371 ; COSM5020372
• MyVariant Identifiers: chrX:g.76891446A>G (hg19) ; chrX:g.77635955A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77635955A>G , CM000685.2:g.77635955A>G	GRCh38
NC_000023.10:g.76891446A>G , CM000685.1:g.76891446A>G	GRCh37
NC_000023.9:g.76778102A>G	NCBI36
NG_008838.2:g.155267T>C
NG_008838.3:g.155315T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4659T>C MANE Select	ENSP00000362441.4:p.His1553=
ENST00000373344.9:c.4659T>C	ENSP00000362441.4:p.His1553=
ENST00000395603.7:c.4545T>C	ENSP00000378967.3:p.His1515=
ENST00000460639.2:n.139T>C
ENST00000480283.5:c.*4287T>C	ENSP00000480196.1:n.*4287T>C
ENST00000623242.3:c.396T>C
NM_000489.4:c.4659T>C	NP_000480.3:p.His1553=
NM_138270.3:c.4545T>C	NP_612114.2:p.His1515=
XM_005262153.3:c.4656T>C	XP_005262210.2:p.His1552=
XM_005262154.3:c.4572T>C	XP_005262211.2:p.His1524=
XM_005262155.3:c.4542T>C	XP_005262212.2:p.His1514=
XM_005262156.3:c.4494T>C	XP_005262213.2:p.His1498=
XM_005262157.3:c.4455T>C	XP_005262214.2:p.His1485=
XM_006724666.2:c.4542T>C	XP_006724729.1:p.His1514=
XM_006724667.2:c.4380T>C	XP_006724730.1:p.His1460=
XM_006724668.2:c.4659T>C	XP_006724731.1:p.His1553=
XR_938400.1:n.4927T>C
NM_000489.5:c.4659T>C	NP_000480.3:p.His1553=
XM_005262153.5:c.4656T>C	XP_005262210.2:p.His1552=
XM_005262154.5:c.4572T>C	XP_005262211.2:p.His1524=
XM_005262155.4:c.4542T>C	XP_005262212.2:p.His1514=
XM_005262156.4:c.4494T>C	XP_005262213.2:p.His1498=
XM_005262157.5:c.4455T>C	XP_005262214.2:p.His1485=
XM_006724666.4:c.4542T>C	XP_006724729.1:p.His1514=
XM_006724667.3:c.4380T>C	XP_006724730.1:p.His1460=
XM_006724668.3:c.4659T>C	XP_006724731.1:p.His1553=
XM_017029601.2:c.4569T>C	XP_016885090.1:p.His1523=
XM_017029602.1:c.4539T>C	XP_016885091.1:p.His1513=
XM_017029603.1:c.4491T>C	XP_016885092.1:p.His1497=
XM_017029604.2:c.4458T>C	XP_016885093.1:p.His1486=
XM_017029605.1:c.4455T>C	XP_016885094.1:p.His1485=
XM_017029606.2:c.4428T>C	XP_016885095.1:p.His1476=
XM_017029607.2:c.4425T>C	XP_016885096.1:p.His1475=
XM_017029608.2:c.4377T>C	XP_016885097.1:p.His1459=
XM_017029609.1:c.4341T>C	XP_016885098.1:p.His1447=
XM_017029610.1:c.4338T>C	XP_016885099.1:p.His1446=
XM_017029611.1:c.4293T>C	XP_016885100.1:p.His1431=
XR_001755700.2:n.4884T>C
NM_138270.4:c.4545T>C	NP_612114.2:p.His1515=
NM_000489.6:c.4659T>C MANE Select	NP_000480.3:p.His1553=
NM_138270.5:c.4545T>C	NP_612114.2:p.His1515=