Canonical Allele Identifier: CA10606603

Gene: ATRX

Linked Data

• ClinVar Variation Id: 289939
• ClinVar RCV Id: RCV000259592 ; RCV001262505
• dbSNP Id: rs886044896
• gnomAD v4: X-77682627-C-T
• MyVariant Identifiers: chrX:g.76938119C>T (hg19) ; chrX:g.77682627C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682627C>T , CM000685.2:g.77682627C>T	GRCh38
NC_000023.10:g.76938119C>T , CM000685.1:g.76938119C>T	GRCh37
NC_000023.9:g.76824775C>T	NCBI36
NG_008838.2:g.108595G>A
NG_008838.3:g.108643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.2629G>A MANE Select	ENSP00000362441.4:p.Asp877Asn
ENST00000373344.9:c.2629G>A	ENSP00000362441.4:p.Asp877Asn
ENST00000395603.7:c.2515G>A	ENSP00000378967.3:p.Asp839Asn
ENST00000480283.5:c.*2257G>A	ENSP00000480196.1:n.*2257G>A
ENST00000624032.3:c.2542G>A	ENSP00000485253.1:p.Asp848Asn
ENST00000624166.3:c.2425G>A	ENSP00000485103.1:p.Asp809Asn
NM_000489.4:c.2629G>A	NP_000480.3:p.Asp877Asn
NM_138270.3:c.2515G>A	NP_612114.2:p.Asp839Asn
XM_005262153.3:c.2626G>A	XP_005262210.2:p.Asp876Asn
XM_005262154.3:c.2542G>A	XP_005262211.2:p.Asp848Asn
XM_005262155.3:c.2512G>A	XP_005262212.2:p.Asp838Asn
XM_005262156.3:c.2464G>A	XP_005262213.2:p.Asp822Asn
XM_005262157.3:c.2425G>A	XP_005262214.2:p.Asp809Asn
XM_006724666.2:c.2512G>A	XP_006724729.1:p.Asp838Asn
XM_006724667.2:c.2350G>A	XP_006724730.1:p.Asp784Asn
XM_006724668.2:c.2629G>A	XP_006724731.1:p.Asp877Asn
XR_938400.1:n.2897G>A
NM_000489.5:c.2629G>A	NP_000480.3:p.Asp877Asn
XM_005262153.5:c.2626G>A	XP_005262210.2:p.Asp876Asn
XM_005262154.5:c.2542G>A	XP_005262211.2:p.Asp848Asn
XM_005262155.4:c.2512G>A	XP_005262212.2:p.Asp838Asn
XM_005262156.4:c.2464G>A	XP_005262213.2:p.Asp822Asn
XM_005262157.5:c.2425G>A	XP_005262214.2:p.Asp809Asn
XM_006724666.4:c.2512G>A	XP_006724729.1:p.Asp838Asn
XM_006724667.3:c.2350G>A	XP_006724730.1:p.Asp784Asn
XM_006724668.3:c.2629G>A	XP_006724731.1:p.Asp877Asn
XM_017029601.2:c.2539G>A	XP_016885090.1:p.Asp847Asn
XM_017029602.1:c.2509G>A	XP_016885091.1:p.Asp837Asn
XM_017029603.1:c.2461G>A	XP_016885092.1:p.Asp821Asn
XM_017029604.2:c.2428G>A	XP_016885093.1:p.Asp810Asn
XM_017029605.1:c.2425G>A	XP_016885094.1:p.Asp809Asn
XM_017029606.2:c.2398G>A	XP_016885095.1:p.Asp800Asn
XM_017029607.2:c.2395G>A	XP_016885096.1:p.Asp799Asn
XM_017029608.2:c.2347G>A	XP_016885097.1:p.Asp783Asn
XM_017029609.1:c.2311G>A	XP_016885098.1:p.Asp771Asn
XM_017029610.1:c.2308G>A	XP_016885099.1:p.Asp770Asn
XM_017029611.1:c.2263G>A	XP_016885100.1:p.Asp755Asn
XR_001755700.2:n.2854G>A
NM_138270.4:c.2515G>A	NP_612114.2:p.Asp839Asn
NM_000489.6:c.2629G>A MANE Select	NP_000480.3:p.Asp877Asn
NM_138270.5:c.2515G>A	NP_612114.2:p.Asp839Asn