Canonical Allele Identifier: CA10603931

Gene: ATRX

Linked Data

• ClinVar Variation Id: 281631
• ClinVar RCV Id: RCV000367387 ; RCV001396741 ; RCV003151005
• dbSNP Id: rs886044778
• gnomAD v4: X-77683810-T-C
• MyVariant Identifiers: chrX:g.76939302T>C (hg19) ; chrX:g.77683810T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683810T>C , CM000685.2:g.77683810T>C	GRCh38
NC_000023.10:g.76939302T>C , CM000685.1:g.76939302T>C	GRCh37
NC_000023.9:g.76825958T>C	NCBI36
NG_008838.2:g.107412A>G
NG_008838.3:g.107460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.1446A>G MANE Select	ENSP00000362441.4:p.Glu482=
ENST00000373344.9:c.1446A>G	ENSP00000362441.4:p.Glu482=
ENST00000395603.7:c.1332A>G	ENSP00000378967.3:p.Glu444=
ENST00000480283.5:c.*1074A>G	ENSP00000480196.1:n.*1074A>G
ENST00000623321.3:c.1281A>G	ENSP00000485127.1:p.Glu427=
ENST00000624032.3:c.1446A>G	ENSP00000485253.1:p.Glu482=
ENST00000624166.3:c.1329A>G	ENSP00000485103.1:p.Glu443=
NM_000489.4:c.1446A>G	NP_000480.3:p.Glu482=
NM_138270.3:c.1332A>G	NP_612114.2:p.Glu444=
XM_005262153.3:c.1443A>G	XP_005262210.2:p.Glu481=
XM_005262154.3:c.1446A>G	XP_005262211.2:p.Glu482=
XM_005262155.3:c.1329A>G	XP_005262212.2:p.Glu443=
XM_005262156.3:c.1281A>G	XP_005262213.2:p.Glu427=
XM_005262157.3:c.1329A>G	XP_005262214.2:p.Glu443=
XM_006724666.2:c.1329A>G	XP_006724729.1:p.Glu443=
XM_006724667.2:c.1167A>G	XP_006724730.1:p.Glu389=
XM_006724668.2:c.1446A>G	XP_006724731.1:p.Glu482=
XR_938400.1:n.1714A>G
NM_000489.5:c.1446A>G	NP_000480.3:p.Glu482=
XM_005262153.5:c.1443A>G	XP_005262210.2:p.Glu481=
XM_005262154.5:c.1446A>G	XP_005262211.2:p.Glu482=
XM_005262155.4:c.1329A>G	XP_005262212.2:p.Glu443=
XM_005262156.4:c.1281A>G	XP_005262213.2:p.Glu427=
XM_005262157.5:c.1329A>G	XP_005262214.2:p.Glu443=
XM_006724666.4:c.1329A>G	XP_006724729.1:p.Glu443=
XM_006724667.3:c.1167A>G	XP_006724730.1:p.Glu389=
XM_006724668.3:c.1446A>G	XP_006724731.1:p.Glu482=
XM_017029601.2:c.1443A>G	XP_016885090.1:p.Glu481=
XM_017029602.1:c.1326A>G	XP_016885091.1:p.Glu442=
XM_017029603.1:c.1278A>G	XP_016885092.1:p.Glu426=
XM_017029604.2:c.1332A>G	XP_016885093.1:p.Glu444=
XM_017029605.1:c.1329A>G	XP_016885094.1:p.Glu443=
XM_017029606.2:c.1215A>G	XP_016885095.1:p.Glu405=
XM_017029607.2:c.1212A>G	XP_016885096.1:p.Glu404=
XM_017029608.2:c.1164A>G	XP_016885097.1:p.Glu388=
XM_017029609.1:c.1215A>G	XP_016885098.1:p.Glu405=
XM_017029610.1:c.1212A>G	XP_016885099.1:p.Glu404=
XM_017029611.1:c.1167A>G	XP_016885100.1:p.Glu389=
XR_001755700.2:n.1671A>G
NM_138270.4:c.1332A>G	NP_612114.2:p.Glu444=
NM_000489.6:c.1446A>G MANE Select	NP_000480.3:p.Glu482=
NM_138270.5:c.1332A>G	NP_612114.2:p.Glu444=