Canonical Allele Identifier: CA517374128

Gene: ATRX

Linked Data

• dbSNP Id: rs2062760506
• MyVariant Identifiers: chrX:g.76763985G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508507G>T , CM000685.2:g.77508507G>T	GRCh38
NC_000023.10:g.76763985G>T , CM000685.1:g.76763985G>T	GRCh37
NC_000023.9:g.76650641G>T	NCBI36
NG_008838.2:g.282715C>A
NG_008838.3:g.282763C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7323C>A MANE Select	ENSP00000362441.4:p.Pro2441=
ENST00000675732.1:c.2421C>A	ENSP00000502598.1:p.Pro807=
ENST00000373344.9:c.7323C>A	ENSP00000362441.4:p.Pro2441=
ENST00000395603.7:c.7209C>A	ENSP00000378967.3:p.Pro2403=
ENST00000480283.5:c.*6951C>A	ENSP00000480196.1:n.*6951C>A
ENST00000623706.3:n.5643C>A
ENST00000624766.1:n.554C>A
NM_000489.4:c.7323C>A	NP_000480.3:p.Pro2441=
NM_138270.3:c.7209C>A	NP_612114.2:p.Pro2403=
XM_005262153.3:c.7320C>A	XP_005262210.2:p.Pro2440=
XM_005262154.3:c.7236C>A	XP_005262211.2:p.Pro2412=
XM_005262155.3:c.7206C>A	XP_005262212.2:p.Pro2402=
XM_005262156.3:c.7158C>A	XP_005262213.2:p.Pro2386=
XM_005262157.3:c.7119C>A	XP_005262214.2:p.Pro2373=
XM_006724666.2:c.7206C>A	XP_006724729.1:p.Pro2402=
XM_006724667.2:c.7044C>A	XP_006724730.1:p.Pro2348=
XR_938400.1:n.8915C>A
NM_000489.5:c.7323C>A	NP_000480.3:p.Pro2441=
XM_005262153.5:c.7320C>A	XP_005262210.2:p.Pro2440=
XM_005262154.5:c.7236C>A	XP_005262211.2:p.Pro2412=
XM_005262155.4:c.7206C>A	XP_005262212.2:p.Pro2402=
XM_005262156.4:c.7158C>A	XP_005262213.2:p.Pro2386=
XM_005262157.5:c.7119C>A	XP_005262214.2:p.Pro2373=
XM_006724666.4:c.7206C>A	XP_006724729.1:p.Pro2402=
XM_006724667.3:c.7044C>A	XP_006724730.1:p.Pro2348=
XM_017029601.2:c.7233C>A	XP_016885090.1:p.Pro2411=
XM_017029602.1:c.7203C>A	XP_016885091.1:p.Pro2401=
XM_017029603.1:c.7155C>A	XP_016885092.1:p.Pro2385=
XM_017029604.2:c.7122C>A	XP_016885093.1:p.Pro2374=
XM_017029605.1:c.7119C>A	XP_016885094.1:p.Pro2373=
XM_017029606.2:c.7092C>A	XP_016885095.1:p.Pro2364=
XM_017029607.2:c.7089C>A	XP_016885096.1:p.Pro2363=
XM_017029608.2:c.7041C>A	XP_016885097.1:p.Pro2347=
XM_017029609.1:c.7005C>A	XP_016885098.1:p.Pro2335=
XM_017029610.1:c.7002C>A	XP_016885099.1:p.Pro2334=
XM_017029611.1:c.6957C>A	XP_016885100.1:p.Pro2319=
XR_001755700.2:n.7622C>A
NM_138270.4:c.7209C>A	NP_612114.2:p.Pro2403=
NM_000489.6:c.7323C>A MANE Select	NP_000480.3:p.Pro2441=
NM_138270.5:c.7209C>A	NP_612114.2:p.Pro2403=