Canonical Allele Identifier: CA331566547

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1109490
• ClinVar RCV Id: RCV001435353
• dbSNP Id: rs782145428
• gnomAD v4: X-77633698-A-C
• MyVariant Identifiers: chrX:g.76889186A>C (hg19) ; chrX:g.77633698A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633698A>C , CM000685.2:g.77633698A>C	GRCh38
NC_000023.10:g.76889186A>C , CM000685.1:g.76889186A>C	GRCh37
NC_000023.9:g.76775842A>C	NCBI36
NG_008838.2:g.157524T>G
NG_008838.3:g.157572T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4824T>G MANE Select	ENSP00000362441.4:p.Leu1608=
ENST00000675732.1:c.-79T>G	ENSP00000502598.1:n.-79T>G
ENST00000675908.1:n.559T>G
ENST00000373344.9:c.4824T>G	ENSP00000362441.4:p.Leu1608=
ENST00000395603.7:c.4710T>G	ENSP00000378967.3:p.Leu1570=
ENST00000480283.5:c.*4452T>G	ENSP00000480196.1:n.*4452T>G
ENST00000623242.3:c.561T>G
ENST00000624403.1:n.168T>G
NM_000489.4:c.4824T>G	NP_000480.3:p.Leu1608=
NM_138270.3:c.4710T>G	NP_612114.2:p.Leu1570=
XM_005262153.3:c.4821T>G	XP_005262210.2:p.Leu1607=
XM_005262154.3:c.4737T>G	XP_005262211.2:p.Leu1579=
XM_005262155.3:c.4707T>G	XP_005262212.2:p.Leu1569=
XM_005262156.3:c.4659T>G	XP_005262213.2:p.Leu1553=
XM_005262157.3:c.4620T>G	XP_005262214.2:p.Leu1540=
XM_006724666.2:c.4707T>G	XP_006724729.1:p.Leu1569=
XM_006724667.2:c.4545T>G	XP_006724730.1:p.Leu1515=
XM_006724668.2:c.4824T>G	XP_006724731.1:p.Leu1608=
XR_938400.1:n.5092T>G
NM_000489.5:c.4824T>G	NP_000480.3:p.Leu1608=
XM_005262153.5:c.4821T>G	XP_005262210.2:p.Leu1607=
XM_005262154.5:c.4737T>G	XP_005262211.2:p.Leu1579=
XM_005262155.4:c.4707T>G	XP_005262212.2:p.Leu1569=
XM_005262156.4:c.4659T>G	XP_005262213.2:p.Leu1553=
XM_005262157.5:c.4620T>G	XP_005262214.2:p.Leu1540=
XM_006724666.4:c.4707T>G	XP_006724729.1:p.Leu1569=
XM_006724667.3:c.4545T>G	XP_006724730.1:p.Leu1515=
XM_006724668.3:c.4824T>G	XP_006724731.1:p.Leu1608=
XM_017029601.2:c.4734T>G	XP_016885090.1:p.Leu1578=
XM_017029602.1:c.4704T>G	XP_016885091.1:p.Leu1568=
XM_017029603.1:c.4656T>G	XP_016885092.1:p.Leu1552=
XM_017029604.2:c.4623T>G	XP_016885093.1:p.Leu1541=
XM_017029605.1:c.4620T>G	XP_016885094.1:p.Leu1540=
XM_017029606.2:c.4593T>G	XP_016885095.1:p.Leu1531=
XM_017029607.2:c.4590T>G	XP_016885096.1:p.Leu1530=
XM_017029608.2:c.4542T>G	XP_016885097.1:p.Leu1514=
XM_017029609.1:c.4506T>G	XP_016885098.1:p.Leu1502=
XM_017029610.1:c.4503T>G	XP_016885099.1:p.Leu1501=
XM_017029611.1:c.4458T>G	XP_016885100.1:p.Leu1486=
XR_001755700.2:n.5049T>G
NM_138270.4:c.4710T>G	NP_612114.2:p.Leu1570=
NM_000489.6:c.4824T>G MANE Select	NP_000480.3:p.Leu1608=
NM_138270.5:c.4710T>G	NP_612114.2:p.Leu1570=