Canonical Allele Identifier: CA10457522

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1597773
• ClinVar RCV Id: RCV002120034
• dbSNP Id: rs782377870
• ExAC: X:76829819 C / T
• gnomAD v2: X-76829819-C-T
• gnomAD v4: X-77574354-C-T
• MyVariant Identifiers: chrX:g.76829819C>T (hg19) ; chrX:g.77574354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574354C>T , CM000685.2:g.77574354C>T	GRCh38
NC_000023.10:g.76829819C>T , CM000685.1:g.76829819C>T	GRCh37
NC_000023.9:g.76716475C>T	NCBI36
NG_008838.2:g.216868G>A
NG_008838.3:g.216916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6222G>A MANE Select	ENSP00000362441.4:p.Glu2074=
ENST00000636152.1:n.57G>A
ENST00000675732.1:c.1320G>A	ENSP00000502598.1:p.Glu440=
ENST00000373344.9:c.6222G>A	ENSP00000362441.4:p.Glu2074=
ENST00000395603.7:c.6108G>A	ENSP00000378967.3:p.Glu2036=
ENST00000480283.5:c.*5850G>A	ENSP00000480196.1:n.*5850G>A
ENST00000623316.1:c.706G>A
ENST00000623706.3:n.3292G>A
NM_000489.4:c.6222G>A	NP_000480.3:p.Glu2074=
NM_138270.3:c.6108G>A	NP_612114.2:p.Glu2036=
XM_005262153.3:c.6219G>A	XP_005262210.2:p.Glu2073=
XM_005262154.3:c.6135G>A	XP_005262211.2:p.Glu2045=
XM_005262155.3:c.6105G>A	XP_005262212.2:p.Glu2035=
XM_005262156.3:c.6057G>A	XP_005262213.2:p.Glu2019=
XM_005262157.3:c.6018G>A	XP_005262214.2:p.Glu2006=
XM_006724666.2:c.6105G>A	XP_006724729.1:p.Glu2035=
XM_006724667.2:c.5943G>A	XP_006724730.1:p.Glu1981=
XR_938400.1:n.6564G>A
NM_000489.5:c.6222G>A	NP_000480.3:p.Glu2074=
XM_005262153.5:c.6219G>A	XP_005262210.2:p.Glu2073=
XM_005262154.5:c.6135G>A	XP_005262211.2:p.Glu2045=
XM_005262155.4:c.6105G>A	XP_005262212.2:p.Glu2035=
XM_005262156.4:c.6057G>A	XP_005262213.2:p.Glu2019=
XM_005262157.5:c.6018G>A	XP_005262214.2:p.Glu2006=
XM_006724666.4:c.6105G>A	XP_006724729.1:p.Glu2035=
XM_006724667.3:c.5943G>A	XP_006724730.1:p.Glu1981=
XM_017029601.2:c.6132G>A	XP_016885090.1:p.Glu2044=
XM_017029602.1:c.6102G>A	XP_016885091.1:p.Glu2034=
XM_017029603.1:c.6054G>A	XP_016885092.1:p.Glu2018=
XM_017029604.2:c.6021G>A	XP_016885093.1:p.Glu2007=
XM_017029605.1:c.6018G>A	XP_016885094.1:p.Glu2006=
XM_017029606.2:c.5991G>A	XP_016885095.1:p.Glu1997=
XM_017029607.2:c.5988G>A	XP_016885096.1:p.Glu1996=
XM_017029608.2:c.5940G>A	XP_016885097.1:p.Glu1980=
XM_017029609.1:c.5904G>A	XP_016885098.1:p.Glu1968=
XM_017029610.1:c.5901G>A	XP_016885099.1:p.Glu1967=
XM_017029611.1:c.5856G>A	XP_016885100.1:p.Glu1952=
XR_001755700.2:n.6521G>A
NM_138270.4:c.6108G>A	NP_612114.2:p.Glu2036=
NM_000489.6:c.6222G>A MANE Select	NP_000480.3:p.Glu2074=
NM_138270.5:c.6108G>A	NP_612114.2:p.Glu2036=