Canonical Allele Identifier: CA10457796

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1614764
• ClinVar RCV Id: RCV002078855
• dbSNP Id: rs782637572
• ExAC: X:76907769 T / C
• gnomAD v2: X-76907769-T-C
• gnomAD v3: X-77652279-T-C
• gnomAD v4: X-77652279-T-C
• MyVariant Identifiers: chrX:g.76907769T>C (hg19) ; chrX:g.76907769_76907787delinsCTCCTCCTCCTCTTCCTCC (hg19) ; chrX:g.77652279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652279T>C , CM000685.2:g.77652279T>C	GRCh38
NC_000023.10:g.76907769T>C , CM000685.1:g.76907769T>C	GRCh37
NC_000023.9:g.76794425T>C	NCBI36
NG_008838.2:g.138943A>G
NG_008838.3:g.138991A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4392A>G MANE Select	ENSP00000362441.4:p.Glu1464=
ENST00000373344.9:c.4392A>G	ENSP00000362441.4:p.Glu1464=
ENST00000395603.7:c.4278A>G	ENSP00000378967.3:p.Glu1426=
ENST00000480283.5:c.*4020A>G	ENSP00000480196.1:n.*4020A>G
NM_000489.4:c.4392A>G	NP_000480.3:p.Glu1464=
NM_138270.3:c.4278A>G	NP_612114.2:p.Glu1426=
XM_005262153.3:c.4389A>G	XP_005262210.2:p.Glu1463=
XM_005262154.3:c.4305A>G	XP_005262211.2:p.Glu1435=
XM_005262155.3:c.4275A>G	XP_005262212.2:p.Glu1425=
XM_005262156.3:c.4227A>G	XP_005262213.2:p.Glu1409=
XM_005262157.3:c.4188A>G	XP_005262214.2:p.Glu1396=
XM_006724666.2:c.4275A>G	XP_006724729.1:p.Glu1425=
XM_006724667.2:c.4113A>G	XP_006724730.1:p.Glu1371=
XM_006724668.2:c.4392A>G	XP_006724731.1:p.Glu1464=
XR_938400.1:n.4660A>G
NM_000489.5:c.4392A>G	NP_000480.3:p.Glu1464=
XM_005262153.5:c.4389A>G	XP_005262210.2:p.Glu1463=
XM_005262154.5:c.4305A>G	XP_005262211.2:p.Glu1435=
XM_005262155.4:c.4275A>G	XP_005262212.2:p.Glu1425=
XM_005262156.4:c.4227A>G	XP_005262213.2:p.Glu1409=
XM_005262157.5:c.4188A>G	XP_005262214.2:p.Glu1396=
XM_006724666.4:c.4275A>G	XP_006724729.1:p.Glu1425=
XM_006724667.3:c.4113A>G	XP_006724730.1:p.Glu1371=
XM_006724668.3:c.4392A>G	XP_006724731.1:p.Glu1464=
XM_017029601.2:c.4302A>G	XP_016885090.1:p.Glu1434=
XM_017029602.1:c.4272A>G	XP_016885091.1:p.Glu1424=
XM_017029603.1:c.4224A>G	XP_016885092.1:p.Glu1408=
XM_017029604.2:c.4191A>G	XP_016885093.1:p.Glu1397=
XM_017029605.1:c.4188A>G	XP_016885094.1:p.Glu1396=
XM_017029606.2:c.4161A>G	XP_016885095.1:p.Glu1387=
XM_017029607.2:c.4158A>G	XP_016885096.1:p.Glu1386=
XM_017029608.2:c.4110A>G	XP_016885097.1:p.Glu1370=
XM_017029609.1:c.4074A>G	XP_016885098.1:p.Glu1358=
XM_017029610.1:c.4071A>G	XP_016885099.1:p.Glu1357=
XM_017029611.1:c.4026A>G	XP_016885100.1:p.Glu1342=
XR_001755700.2:n.4617A>G
NM_138270.4:c.4278A>G	NP_612114.2:p.Glu1426=
NM_000489.6:c.4392A>G MANE Select	NP_000480.3:p.Glu1464=
NM_138270.5:c.4278A>G	NP_612114.2:p.Glu1426=