Canonical Allele Identifier: CA16608989

Gene: ATRX

Linked Data

• ClinVar Variation Id: 381007
• ClinVar RCV Id: RCV000418730
• dbSNP Id: rs1057520923
• MyVariant Identifiers: chrX:g.76763974A>T (hg19) ; chrX:g.77508496A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508496A>T , CM000685.2:g.77508496A>T	GRCh38
NC_000023.10:g.76763974A>T , CM000685.1:g.76763974A>T	GRCh37
NC_000023.9:g.76650630A>T	NCBI36
NG_008838.2:g.282726T>A
NG_008838.3:g.282774T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7334T>A MANE Select	ENSP00000362441.4:p.Ile2445Asn
ENST00000675732.1:c.2432T>A	ENSP00000502598.1:p.Ile811Asn
ENST00000373344.9:c.7334T>A	ENSP00000362441.4:p.Ile2445Asn
ENST00000395603.7:c.7220T>A	ENSP00000378967.3:p.Ile2407Asn
ENST00000480283.5:c.*6962T>A	ENSP00000480196.1:n.*6962T>A
ENST00000623706.3:n.5654T>A
ENST00000624766.1:n.565T>A
NM_000489.4:c.7334T>A	NP_000480.3:p.Ile2445Asn
NM_138270.3:c.7220T>A	NP_612114.2:p.Ile2407Asn
XM_005262153.3:c.7331T>A	XP_005262210.2:p.Ile2444Asn
XM_005262154.3:c.7247T>A	XP_005262211.2:p.Ile2416Asn
XM_005262155.3:c.7217T>A	XP_005262212.2:p.Ile2406Asn
XM_005262156.3:c.7169T>A	XP_005262213.2:p.Ile2390Asn
XM_005262157.3:c.7130T>A	XP_005262214.2:p.Ile2377Asn
XM_006724666.2:c.7217T>A	XP_006724729.1:p.Ile2406Asn
XM_006724667.2:c.7055T>A	XP_006724730.1:p.Ile2352Asn
XR_938400.1:n.8926T>A
NM_000489.5:c.7334T>A	NP_000480.3:p.Ile2445Asn
XM_005262153.5:c.7331T>A	XP_005262210.2:p.Ile2444Asn
XM_005262154.5:c.7247T>A	XP_005262211.2:p.Ile2416Asn
XM_005262155.4:c.7217T>A	XP_005262212.2:p.Ile2406Asn
XM_005262156.4:c.7169T>A	XP_005262213.2:p.Ile2390Asn
XM_005262157.5:c.7130T>A	XP_005262214.2:p.Ile2377Asn
XM_006724666.4:c.7217T>A	XP_006724729.1:p.Ile2406Asn
XM_006724667.3:c.7055T>A	XP_006724730.1:p.Ile2352Asn
XM_017029601.2:c.7244T>A	XP_016885090.1:p.Ile2415Asn
XM_017029602.1:c.7214T>A	XP_016885091.1:p.Ile2405Asn
XM_017029603.1:c.7166T>A	XP_016885092.1:p.Ile2389Asn
XM_017029604.2:c.7133T>A	XP_016885093.1:p.Ile2378Asn
XM_017029605.1:c.7130T>A	XP_016885094.1:p.Ile2377Asn
XM_017029606.2:c.7103T>A	XP_016885095.1:p.Ile2368Asn
XM_017029607.2:c.7100T>A	XP_016885096.1:p.Ile2367Asn
XM_017029608.2:c.7052T>A	XP_016885097.1:p.Ile2351Asn
XM_017029609.1:c.7016T>A	XP_016885098.1:p.Ile2339Asn
XM_017029610.1:c.7013T>A	XP_016885099.1:p.Ile2338Asn
XM_017029611.1:c.6968T>A	XP_016885100.1:p.Ile2323Asn
XR_001755700.2:n.7633T>A
NM_138270.4:c.7220T>A	NP_612114.2:p.Ile2407Asn
NM_000489.6:c.7334T>A MANE Select	NP_000480.3:p.Ile2445Asn
NM_138270.5:c.7220T>A	NP_612114.2:p.Ile2407Asn