Canonical Allele Identifier: CA413703719

Gene: ATRX

Linked Data

• dbSNP Id: rs2062757094
• MyVariant Identifiers: chrX:g.76763885C>T (hg19) ; chrX:g.77508407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508407C>T , CM000685.2:g.77508407C>T	GRCh38
NC_000023.10:g.76763885C>T , CM000685.1:g.76763885C>T	GRCh37
NC_000023.9:g.76650541C>T	NCBI36
NG_008838.2:g.282815G>A
NG_008838.3:g.282863G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7423G>A MANE Select	ENSP00000362441.4:p.Ala2475Thr
ENST00000675732.1:c.2521G>A	ENSP00000502598.1:p.Ala841Thr
ENST00000373344.9:c.7423G>A	ENSP00000362441.4:p.Ala2475Thr
ENST00000395603.7:c.7309G>A	ENSP00000378967.3:p.Ala2437Thr
ENST00000480283.5:c.*7051G>A	ENSP00000480196.1:n.*7051G>A
ENST00000623706.3:n.5743G>A
NM_000489.4:c.7423G>A	NP_000480.3:p.Ala2475Thr
NM_138270.3:c.7309G>A	NP_612114.2:p.Ala2437Thr
XM_005262153.3:c.7420G>A	XP_005262210.2:p.Ala2474Thr
XM_005262154.3:c.7336G>A	XP_005262211.2:p.Ala2446Thr
XM_005262155.3:c.7306G>A	XP_005262212.2:p.Ala2436Thr
XM_005262156.3:c.7258G>A	XP_005262213.2:p.Ala2420Thr
XM_005262157.3:c.7219G>A	XP_005262214.2:p.Ala2407Thr
XM_006724666.2:c.7306G>A	XP_006724729.1:p.Ala2436Thr
XM_006724667.2:c.7144G>A	XP_006724730.1:p.Ala2382Thr
XR_938400.1:n.9015G>A
NM_000489.5:c.7423G>A	NP_000480.3:p.Ala2475Thr
XM_005262153.5:c.7420G>A	XP_005262210.2:p.Ala2474Thr
XM_005262154.5:c.7336G>A	XP_005262211.2:p.Ala2446Thr
XM_005262155.4:c.7306G>A	XP_005262212.2:p.Ala2436Thr
XM_005262156.4:c.7258G>A	XP_005262213.2:p.Ala2420Thr
XM_005262157.5:c.7219G>A	XP_005262214.2:p.Ala2407Thr
XM_006724666.4:c.7306G>A	XP_006724729.1:p.Ala2436Thr
XM_006724667.3:c.7144G>A	XP_006724730.1:p.Ala2382Thr
XM_017029601.2:c.7333G>A	XP_016885090.1:p.Ala2445Thr
XM_017029602.1:c.7303G>A	XP_016885091.1:p.Ala2435Thr
XM_017029603.1:c.7255G>A	XP_016885092.1:p.Ala2419Thr
XM_017029604.2:c.7222G>A	XP_016885093.1:p.Ala2408Thr
XM_017029605.1:c.7219G>A	XP_016885094.1:p.Ala2407Thr
XM_017029606.2:c.7192G>A	XP_016885095.1:p.Ala2398Thr
XM_017029607.2:c.7189G>A	XP_016885096.1:p.Ala2397Thr
XM_017029608.2:c.7141G>A	XP_016885097.1:p.Ala2381Thr
XM_017029609.1:c.7105G>A	XP_016885098.1:p.Ala2369Thr
XM_017029610.1:c.7102G>A	XP_016885099.1:p.Ala2368Thr
XM_017029611.1:c.7057G>A	XP_016885100.1:p.Ala2353Thr
XR_001755700.2:n.7722G>A
NM_138270.4:c.7309G>A	NP_612114.2:p.Ala2437Thr
NM_000489.6:c.7423G>A MANE Select	NP_000480.3:p.Ala2475Thr
NM_138270.5:c.7309G>A	NP_612114.2:p.Ala2437Thr