Canonical Allele Identifier: CA413707146

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776317A>T (hg19) ; chrX:g.77520839A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520839A>T , CM000685.2:g.77520839A>T	GRCh38
NC_000023.10:g.76776317A>T , CM000685.1:g.76776317A>T	GRCh37
NC_000023.9:g.76662973A>T	NCBI36
NG_008838.2:g.270383T>A
NG_008838.3:g.270431T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7149T>A MANE Select	ENSP00000362441.4:p.Asp2383Glu
ENST00000675732.1:c.2247T>A	ENSP00000502598.1:p.Asp749Glu
ENST00000373344.9:c.7149T>A	ENSP00000362441.4:p.Asp2383Glu
ENST00000395603.7:c.7035T>A	ENSP00000378967.3:p.Asp2345Glu
ENST00000480283.5:c.*6777T>A	ENSP00000480196.1:n.*6777T>A
ENST00000623706.3:n.5469T>A
ENST00000624766.1:n.380T>A
NM_000489.4:c.7149T>A	NP_000480.3:p.Asp2383Glu
NM_138270.3:c.7035T>A	NP_612114.2:p.Asp2345Glu
XM_005262153.3:c.7146T>A	XP_005262210.2:p.Asp2382Glu
XM_005262154.3:c.7062T>A	XP_005262211.2:p.Asp2354Glu
XM_005262155.3:c.7032T>A	XP_005262212.2:p.Asp2344Glu
XM_005262156.3:c.6984T>A	XP_005262213.2:p.Asp2328Glu
XM_005262157.3:c.6945T>A	XP_005262214.2:p.Asp2315Glu
XM_006724666.2:c.7032T>A	XP_006724729.1:p.Asp2344Glu
XM_006724667.2:c.6870T>A	XP_006724730.1:p.Asp2290Glu
XR_938400.1:n.8741T>A
NM_000489.5:c.7149T>A	NP_000480.3:p.Asp2383Glu
XM_005262153.5:c.7146T>A	XP_005262210.2:p.Asp2382Glu
XM_005262154.5:c.7062T>A	XP_005262211.2:p.Asp2354Glu
XM_005262155.4:c.7032T>A	XP_005262212.2:p.Asp2344Glu
XM_005262156.4:c.6984T>A	XP_005262213.2:p.Asp2328Glu
XM_005262157.5:c.6945T>A	XP_005262214.2:p.Asp2315Glu
XM_006724666.4:c.7032T>A	XP_006724729.1:p.Asp2344Glu
XM_006724667.3:c.6870T>A	XP_006724730.1:p.Asp2290Glu
XM_017029601.2:c.7059T>A	XP_016885090.1:p.Asp2353Glu
XM_017029602.1:c.7029T>A	XP_016885091.1:p.Asp2343Glu
XM_017029603.1:c.6981T>A	XP_016885092.1:p.Asp2327Glu
XM_017029604.2:c.6948T>A	XP_016885093.1:p.Asp2316Glu
XM_017029605.1:c.6945T>A	XP_016885094.1:p.Asp2315Glu
XM_017029606.2:c.6918T>A	XP_016885095.1:p.Asp2306Glu
XM_017029607.2:c.6915T>A	XP_016885096.1:p.Asp2305Glu
XM_017029608.2:c.6867T>A	XP_016885097.1:p.Asp2289Glu
XM_017029609.1:c.6831T>A	XP_016885098.1:p.Asp2277Glu
XM_017029610.1:c.6828T>A	XP_016885099.1:p.Asp2276Glu
XM_017029611.1:c.6783T>A	XP_016885100.1:p.Asp2261Glu
XR_001755700.2:n.7448T>A
NM_138270.4:c.7035T>A	NP_612114.2:p.Asp2345Glu
NM_000489.6:c.7149T>A MANE Select	NP_000480.3:p.Asp2383Glu
NM_138270.5:c.7035T>A	NP_612114.2:p.Asp2345Glu