Canonical Allele Identifier: CA413720566

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2871213
• ClinVar RCV Id: RCV003623954
• dbSNP Id: rs1557142722
• gnomAD v2: X-76939924-T-C
• gnomAD v3: X-77684432-T-C
• gnomAD v4: X-77684432-T-C
• MyVariant Identifiers: chrX:g.76939924T>C (hg19) ; chrX:g.77684432T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684432T>C , CM000685.2:g.77684432T>C	GRCh38
NC_000023.10:g.76939924T>C , CM000685.1:g.76939924T>C	GRCh37
NC_000023.9:g.76826580T>C	NCBI36
NG_008838.2:g.106790A>G
NG_008838.3:g.106838A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.824A>G MANE Select	ENSP00000362441.4:p.Asp275Gly
ENST00000373344.9:c.824A>G	ENSP00000362441.4:p.Asp275Gly
ENST00000395603.7:c.710A>G	ENSP00000378967.3:p.Asp237Gly
ENST00000480283.5:c.*452A>G	ENSP00000480196.1:n.*452A>G
ENST00000623321.3:c.659A>G	ENSP00000485127.1:p.Asp220Gly
ENST00000624032.3:c.824A>G	ENSP00000485253.1:p.Asp275Gly
ENST00000624166.3:c.707A>G	ENSP00000485103.1:p.Asp236Gly
NM_000489.4:c.824A>G	NP_000480.3:p.Asp275Gly
NM_138270.3:c.710A>G	NP_612114.2:p.Asp237Gly
XM_005262153.3:c.821A>G	XP_005262210.2:p.Asp274Gly
XM_005262154.3:c.824A>G	XP_005262211.2:p.Asp275Gly
XM_005262155.3:c.707A>G	XP_005262212.2:p.Asp236Gly
XM_005262156.3:c.659A>G	XP_005262213.2:p.Asp220Gly
XM_005262157.3:c.707A>G	XP_005262214.2:p.Asp236Gly
XM_006724666.2:c.707A>G	XP_006724729.1:p.Asp236Gly
XM_006724667.2:c.545A>G	XP_006724730.1:p.Asp182Gly
XM_006724668.2:c.824A>G	XP_006724731.1:p.Asp275Gly
XR_938400.1:n.1092A>G
NM_000489.5:c.824A>G	NP_000480.3:p.Asp275Gly
XM_005262153.5:c.821A>G	XP_005262210.2:p.Asp274Gly
XM_005262154.5:c.824A>G	XP_005262211.2:p.Asp275Gly
XM_005262155.4:c.707A>G	XP_005262212.2:p.Asp236Gly
XM_005262156.4:c.659A>G	XP_005262213.2:p.Asp220Gly
XM_005262157.5:c.707A>G	XP_005262214.2:p.Asp236Gly
XM_006724666.4:c.707A>G	XP_006724729.1:p.Asp236Gly
XM_006724667.3:c.545A>G	XP_006724730.1:p.Asp182Gly
XM_006724668.3:c.824A>G	XP_006724731.1:p.Asp275Gly
XM_017029601.2:c.821A>G	XP_016885090.1:p.Asp274Gly
XM_017029602.1:c.704A>G	XP_016885091.1:p.Asp235Gly
XM_017029603.1:c.656A>G	XP_016885092.1:p.Asp219Gly
XM_017029604.2:c.710A>G	XP_016885093.1:p.Asp237Gly
XM_017029605.1:c.707A>G	XP_016885094.1:p.Asp236Gly
XM_017029606.2:c.593A>G	XP_016885095.1:p.Asp198Gly
XM_017029607.2:c.590A>G	XP_016885096.1:p.Asp197Gly
XM_017029608.2:c.542A>G	XP_016885097.1:p.Asp181Gly
XM_017029609.1:c.593A>G	XP_016885098.1:p.Asp198Gly
XM_017029610.1:c.590A>G	XP_016885099.1:p.Asp197Gly
XM_017029611.1:c.545A>G	XP_016885100.1:p.Asp182Gly
XR_001755700.2:n.1049A>G
NM_138270.4:c.710A>G	NP_612114.2:p.Asp237Gly
NM_000489.6:c.824A>G MANE Select	NP_000480.3:p.Asp275Gly
NM_138270.5:c.710A>G	NP_612114.2:p.Asp237Gly