Canonical Allele Identifier: CA413709024

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907841A>T (hg19) ; chrX:g.77652351A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652351A>T , CM000685.2:g.77652351A>T	GRCh38
NC_000023.10:g.76907841A>T , CM000685.1:g.76907841A>T	GRCh37
NC_000023.9:g.76794497A>T	NCBI36
NG_008838.2:g.138871T>A
NG_008838.3:g.138919T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4320T>A MANE Select	ENSP00000362441.4:p.Ser1440Arg
ENST00000373344.9:c.4320T>A	ENSP00000362441.4:p.Ser1440Arg
ENST00000395603.7:c.4206T>A	ENSP00000378967.3:p.Ser1402Arg
ENST00000480283.5:c.*3948T>A	ENSP00000480196.1:n.*3948T>A
NM_000489.4:c.4320T>A	NP_000480.3:p.Ser1440Arg
NM_138270.3:c.4206T>A	NP_612114.2:p.Ser1402Arg
XM_005262153.3:c.4317T>A	XP_005262210.2:p.Ser1439Arg
XM_005262154.3:c.4233T>A	XP_005262211.2:p.Ser1411Arg
XM_005262155.3:c.4203T>A	XP_005262212.2:p.Ser1401Arg
XM_005262156.3:c.4155T>A	XP_005262213.2:p.Ser1385Arg
XM_005262157.3:c.4116T>A	XP_005262214.2:p.Ser1372Arg
XM_006724666.2:c.4203T>A	XP_006724729.1:p.Ser1401Arg
XM_006724667.2:c.4041T>A	XP_006724730.1:p.Ser1347Arg
XM_006724668.2:c.4320T>A	XP_006724731.1:p.Ser1440Arg
XR_938400.1:n.4588T>A
NM_000489.5:c.4320T>A	NP_000480.3:p.Ser1440Arg
XM_005262153.5:c.4317T>A	XP_005262210.2:p.Ser1439Arg
XM_005262154.5:c.4233T>A	XP_005262211.2:p.Ser1411Arg
XM_005262155.4:c.4203T>A	XP_005262212.2:p.Ser1401Arg
XM_005262156.4:c.4155T>A	XP_005262213.2:p.Ser1385Arg
XM_005262157.5:c.4116T>A	XP_005262214.2:p.Ser1372Arg
XM_006724666.4:c.4203T>A	XP_006724729.1:p.Ser1401Arg
XM_006724667.3:c.4041T>A	XP_006724730.1:p.Ser1347Arg
XM_006724668.3:c.4320T>A	XP_006724731.1:p.Ser1440Arg
XM_017029601.2:c.4230T>A	XP_016885090.1:p.Ser1410Arg
XM_017029602.1:c.4200T>A	XP_016885091.1:p.Ser1400Arg
XM_017029603.1:c.4152T>A	XP_016885092.1:p.Ser1384Arg
XM_017029604.2:c.4119T>A	XP_016885093.1:p.Ser1373Arg
XM_017029605.1:c.4116T>A	XP_016885094.1:p.Ser1372Arg
XM_017029606.2:c.4089T>A	XP_016885095.1:p.Ser1363Arg
XM_017029607.2:c.4086T>A	XP_016885096.1:p.Ser1362Arg
XM_017029608.2:c.4038T>A	XP_016885097.1:p.Ser1346Arg
XM_017029609.1:c.4002T>A	XP_016885098.1:p.Ser1334Arg
XM_017029610.1:c.3999T>A	XP_016885099.1:p.Ser1333Arg
XM_017029611.1:c.3954T>A	XP_016885100.1:p.Ser1318Arg
XR_001755700.2:n.4545T>A
NM_138270.4:c.4206T>A	NP_612114.2:p.Ser1402Arg
NM_000489.6:c.4320T>A MANE Select	NP_000480.3:p.Ser1440Arg
NM_138270.5:c.4206T>A	NP_612114.2:p.Ser1402Arg