Canonical Allele Identifier: CA256034

Gene: ATRX

Linked Data

• ClinVar Variation Id: 11728
• ClinVar RCV Id: RCV000012494 ; RCV000723525 ; RCV000735339 ; RCV002283442 ; RCV003156057 ; RCV004532323
• dbSNP Id: rs122445099
• MyVariant Identifiers: chrX:g.76776310G>A (hg19) ; chrX:g.77520832G>A (hg38)
• PubMed: PMID:7697714

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520832G>A , CM000685.2:g.77520832G>A	GRCh38
NC_000023.10:g.76776310G>A , CM000685.1:g.76776310G>A	GRCh37
NC_000023.9:g.76662966G>A	NCBI36
NG_008838.2:g.270390C>T
NG_008838.3:g.270438C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7156C>T MANE Select	ENSP00000362441.4:p.Arg2386Ter
ENST00000675732.1:c.2254C>T	ENSP00000502598.1:p.Arg752Ter
ENST00000373344.9:c.7156C>T	ENSP00000362441.4:p.Arg2386Ter
ENST00000395603.7:c.7042C>T	ENSP00000378967.3:p.Arg2348Ter
ENST00000480283.5:c.*6784C>T	ENSP00000480196.1:n.*6784C>T
ENST00000623706.3:n.5476C>T
ENST00000624766.1:n.387C>T
NM_000489.4:c.7156C>T	NP_000480.3:p.Arg2386Ter
NM_138270.3:c.7042C>T	NP_612114.2:p.Arg2348Ter
XM_005262153.3:c.7153C>T	XP_005262210.2:p.Arg2385Ter
XM_005262154.3:c.7069C>T	XP_005262211.2:p.Arg2357Ter
XM_005262155.3:c.7039C>T	XP_005262212.2:p.Arg2347Ter
XM_005262156.3:c.6991C>T	XP_005262213.2:p.Arg2331Ter
XM_005262157.3:c.6952C>T	XP_005262214.2:p.Arg2318Ter
XM_006724666.2:c.7039C>T	XP_006724729.1:p.Arg2347Ter
XM_006724667.2:c.6877C>T	XP_006724730.1:p.Arg2293Ter
XR_938400.1:n.8748C>T
NM_000489.5:c.7156C>T	NP_000480.3:p.Arg2386Ter
XM_005262153.5:c.7153C>T	XP_005262210.2:p.Arg2385Ter
XM_005262154.5:c.7069C>T	XP_005262211.2:p.Arg2357Ter
XM_005262155.4:c.7039C>T	XP_005262212.2:p.Arg2347Ter
XM_005262156.4:c.6991C>T	XP_005262213.2:p.Arg2331Ter
XM_005262157.5:c.6952C>T	XP_005262214.2:p.Arg2318Ter
XM_006724666.4:c.7039C>T	XP_006724729.1:p.Arg2347Ter
XM_006724667.3:c.6877C>T	XP_006724730.1:p.Arg2293Ter
XM_017029601.2:c.7066C>T	XP_016885090.1:p.Arg2356Ter
XM_017029602.1:c.7036C>T	XP_016885091.1:p.Arg2346Ter
XM_017029603.1:c.6988C>T	XP_016885092.1:p.Arg2330Ter
XM_017029604.2:c.6955C>T	XP_016885093.1:p.Arg2319Ter
XM_017029605.1:c.6952C>T	XP_016885094.1:p.Arg2318Ter
XM_017029606.2:c.6925C>T	XP_016885095.1:p.Arg2309Ter
XM_017029607.2:c.6922C>T	XP_016885096.1:p.Arg2308Ter
XM_017029608.2:c.6874C>T	XP_016885097.1:p.Arg2292Ter
XM_017029609.1:c.6838C>T	XP_016885098.1:p.Arg2280Ter
XM_017029610.1:c.6835C>T	XP_016885099.1:p.Arg2279Ter
XM_017029611.1:c.6790C>T	XP_016885100.1:p.Arg2264Ter
XR_001755700.2:n.7455C>T
NM_138270.4:c.7042C>T	NP_612114.2:p.Arg2348Ter
NM_000489.6:c.7156C>T MANE Select	NP_000480.3:p.Arg2386Ter
NM_138270.5:c.7042C>T	NP_612114.2:p.Arg2348Ter