Canonical Allele Identifier: CA413704397

Gene: ATRX

Linked Data

• dbSNP Id: rs2147649437
• MyVariant Identifiers: chrX:g.76763980T>A (hg19) ; chrX:g.77508502T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508502T>A , CM000685.2:g.77508502T>A	GRCh38
NC_000023.10:g.76763980T>A , CM000685.1:g.76763980T>A	GRCh37
NC_000023.9:g.76650636T>A	NCBI36
NG_008838.2:g.282720A>T
NG_008838.3:g.282768A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7328A>T MANE Select	ENSP00000362441.4:p.Asn2443Ile
ENST00000675732.1:c.2426A>T	ENSP00000502598.1:p.Asn809Ile
ENST00000373344.9:c.7328A>T	ENSP00000362441.4:p.Asn2443Ile
ENST00000395603.7:c.7214A>T	ENSP00000378967.3:p.Asn2405Ile
ENST00000480283.5:c.*6956A>T	ENSP00000480196.1:n.*6956A>T
ENST00000623706.3:n.5648A>T
ENST00000624766.1:n.559A>T
NM_000489.4:c.7328A>T	NP_000480.3:p.Asn2443Ile
NM_138270.3:c.7214A>T	NP_612114.2:p.Asn2405Ile
XM_005262153.3:c.7325A>T	XP_005262210.2:p.Asn2442Ile
XM_005262154.3:c.7241A>T	XP_005262211.2:p.Asn2414Ile
XM_005262155.3:c.7211A>T	XP_005262212.2:p.Asn2404Ile
XM_005262156.3:c.7163A>T	XP_005262213.2:p.Asn2388Ile
XM_005262157.3:c.7124A>T	XP_005262214.2:p.Asn2375Ile
XM_006724666.2:c.7211A>T	XP_006724729.1:p.Asn2404Ile
XM_006724667.2:c.7049A>T	XP_006724730.1:p.Asn2350Ile
XR_938400.1:n.8920A>T
NM_000489.5:c.7328A>T	NP_000480.3:p.Asn2443Ile
XM_005262153.5:c.7325A>T	XP_005262210.2:p.Asn2442Ile
XM_005262154.5:c.7241A>T	XP_005262211.2:p.Asn2414Ile
XM_005262155.4:c.7211A>T	XP_005262212.2:p.Asn2404Ile
XM_005262156.4:c.7163A>T	XP_005262213.2:p.Asn2388Ile
XM_005262157.5:c.7124A>T	XP_005262214.2:p.Asn2375Ile
XM_006724666.4:c.7211A>T	XP_006724729.1:p.Asn2404Ile
XM_006724667.3:c.7049A>T	XP_006724730.1:p.Asn2350Ile
XM_017029601.2:c.7238A>T	XP_016885090.1:p.Asn2413Ile
XM_017029602.1:c.7208A>T	XP_016885091.1:p.Asn2403Ile
XM_017029603.1:c.7160A>T	XP_016885092.1:p.Asn2387Ile
XM_017029604.2:c.7127A>T	XP_016885093.1:p.Asn2376Ile
XM_017029605.1:c.7124A>T	XP_016885094.1:p.Asn2375Ile
XM_017029606.2:c.7097A>T	XP_016885095.1:p.Asn2366Ile
XM_017029607.2:c.7094A>T	XP_016885096.1:p.Asn2365Ile
XM_017029608.2:c.7046A>T	XP_016885097.1:p.Asn2349Ile
XM_017029609.1:c.7010A>T	XP_016885098.1:p.Asn2337Ile
XM_017029610.1:c.7007A>T	XP_016885099.1:p.Asn2336Ile
XM_017029611.1:c.6962A>T	XP_016885100.1:p.Asn2321Ile
XR_001755700.2:n.7627A>T
NM_138270.4:c.7214A>T	NP_612114.2:p.Asn2405Ile
NM_000489.6:c.7328A>T MANE Select	NP_000480.3:p.Asn2443Ile
NM_138270.5:c.7214A>T	NP_612114.2:p.Asn2405Ile